TURNER S SYNDROME

and Turner contact groups

TURNER S SYNDROME
and Turner contact groups

An orientation
By Johannes Nielsen, Rune W. Naeraa and members of Turner contact groups in Denmark
1991 by the authors and The Turner Center Cytogenetic Laboratory Skovagervej 2 DK-8240 Risskov, Denmark tel. 7789 3609 ISBN: 87-89529-06-5 Prepared for Internet Jens Erik Thygesen 3rd revised edition 1991 Economic support for publication has been provided by Novo Nordisk A/S, Niels Steensensvej 1, 2820 Gentofte, Denmark.

Contents
Preface Where does the name Turners syndrome come from? What is the frequency of Turners syndrome? What is the cause of Turners syndrome? What causes the chromosome aberration in Turners syndrome? Does a newborn girl present any Turner signs?

How do Turner girls develop during childhood? Diagnosing Turner girls Do Turner girls suffer from special disorders during childhood or later in life? How is height development? Can anything be done in order to increase height? How do Turner girls get on at school? What do their teachers say about their school performance? How are their relationships to classmates and teachers? How is their personality development? Do Turner girls have normal intelligence? What about education and job adjustment? Do they have a normal pubertal development? Can they have spontaneous menstruations? How should female sex hormone be administered? Can they have a normal sexual life? Can they have children? Can they adopt children? Can they have in vitro fertilization? Can they get egg donation? Is there an increased risk of mental illness? Is Turners syndrome a disease? What is it like to have a Turner daughter? Should parents be given full information about Turners syndrome? Should Turner girls be given full information? Should the public have information about Turners syndrome? What information should parents be given when chromosome examination of amniotic fluid reveals that they are going to have a Turner baby? Information for minor Turner girls Nordic and international co-operation The Turner Center in rhus What are Turner contact groups? When did the Turner contact groups start in Denmark? Examples of what happened in the rhus Turner contact group Establishment of further contact groups in Denmark and a national society of Turner contact groups Excerpt from the statutes of the National Society of Turner Contact Groups in Denmark Why are Turner contact groups so valuable? The Turner Youth Group Letters from Turner contact groups

 Turner contact group in Copenhagen Members of Turner contact groups in Denmark recount their experiences

"Theres hardly any difference" "Hurrah - Im a Turner"

"Some of my experiences as a Turner girl" "I was 15 years old when "sentence" was passed" "Everything that I could wish for" "I might be small, but the others have to accept it" "A woman in every sense of the word" "Information, information and more information" The Turner contact groups conclude Poems by Marie Thrse Salliou: Songs in the night The Daisy A word from Marie Thrse Salliou Literature about Turners syndrome

Illustrations
Fig. 1. The chromosomes of a Turner woman Fig. 2. Regina with edema of her hands and feet and neck-webbing Fig. 3. Echocardiography of a Turner girl Fig. 4a. Growth velocity development for Turner girls Fig. 4b. Height development in untreated Turner girls Fig. 5. Turner girls height as a percentage of normal height Fig. 6. Regina practices growth hormone injection with an orange Fig. 7. Growth velocity for Turner girls undergoing growth stimulating therapy Fig. 8. Cecilia takes her daily growth hormone injection Fig. 9. Cecilia and Gitte with schoolfriends Fig. 10. Regina before and soon after her operation for neck-webbing Fig. 11. Cecilia at height measurement Fig. 12. 3 young Turner girls Fig. 13. Personnel at the Turner Center in rhus Fig. 14. Turner girls at a contact group meeting in rhus, 1982

Fig. 15. Turner Youth Group members on a weekend trip

Preface
This book was written and published in Danish in 1985 on the background of a tremendous need for further information about Turners syndrome, and a wish to extend the knowledge about Turner contact groups in Denmark. It is in no way an attempt to give a comprehensive description of all aspects of Turners syndrome. Information in the book can be supplemented by reading some of the Turner literature mentioned on page 93. The book has been written with the intention of providing better information for Turner girls/women, their parents and relatives, as well as for parents who have undergone prenatal examination and been informed that the child they are expecting has Turners syndrome. It is, however, also our hope that it will be read by genetical counsellors, doctors, teachers and others who come into professional contact with Turner girls/women and parents. More information will, however, first and foremost be valuable for those who have Turners syndrome and for their closest relatives. The book has been given free of charge to all known Turner families and Turner women in Denmark and sent to all gynaecological, paediatric, genetical, school-psychological and health nurse departments in Denmark, as well as to all doctors who have a Turner girl among their patients. It is further available in book stores and libraries, and it has been sent to newspapers, magazines, radio and television, for review and comments. There has so far been a great interest and demand for this book, and there is no doubt that it fills a gap in the available information about Turners syndrome. The need for Turner information around the world is evident from the fact that the book has now been translated and published in 13 languages. The first English edition has been sent free of charge to all Turner contact groups around the world in order that they can pass it on to their members, to doctors and others working with Turner girls and women doing Turner research. In this second English edition we have made changes, especially concerning growth, hormone treatment and information to parents. Johannes Nielsen Turner Center, rhus As a Turner woman I would very much like to stress that there is still a great need for further information about Turners syndrome, despite the fact that knowledge about Turners syndrome is far more widespread in todays society, than it was only a very few years ago. To have become a member of a Turner contact group, to have met others with the same complex of problems, fellow beings who really understand how I feel and think, has radically changed my life. It has strengthened my own identity and made it possible for me to accept myself as a Turner woman. A great deal has happened in the National Society of Turner Contact Groups in Denmark since the first edition of this book was published in 1986. Awareness of the Societys existence and activities has spread far more rapidly than we could have hoped for, primarily as a result of the publication of this book. In September 1988 we held the first international meeting for Turner Contact groups in rhus, with the participation of representatives from 15 countries. In 1990 the first Scandinavian meeting for Turner contact groups was held in Oslo and in September 1991 the second international meeting of Turner contact groups will be held in Spain. I sincerely hope that these meetings will lead to the establishment of both Nordic and international associations of Turner contact groups. As a Turner woman, its a source of great satisfaction to live at a time when so much research is being undertaken on Turners syndrome. Its wonderful to see how treatment with biosynthetic human growth hormone and better planned estrogen treatment can give the girls some valuable extra centimeters and more normal pubertal development. We have been able to establish a Turner information, counselling and research center in rhus and on this background we have much better resources to work towards a solution of the problems which, after all, are associated with Turners syndrome.

Finally I would like to express my gratitude to Johannes Nielsen for the massive and invaluable volume of work he has done over the years (and continues to do), not only for us with Turners syndrome, but also for people with all other forms of chromosome aberration. Without his energy and dynamism we would never have been able to achieve as much as we have today. Bente Konradsen Consultant Turner Center, rhus

Fig. 1. Karyotype with isochromosome X from a Turner woman, 70% of whose cells lack an X (45,X), while 30% lack the short arm of X and have double long arms (46,X i (Xq)).

Where does the name Turner s syndrome come from?

Turners syndrome is named after an American doctor, Henry Turner. In 1938, Henry Turner described a syndrome in women with decreased height and lack of development of secondary sex characteristics, i.e. breasts and sexual hair growth. Henry Turner also found that these women often had so-called neck-webbing, a skin fold on both sides of the neck. It was not until 1959 that it was discovered that women with Turners syndrome lack an X chromosome or part of an X.

What is the frequency of Turner s syndrome?

Only 10 years ago it was believed that the frequency of Turners syndrome was 1 per 3,000 girls/women. Later studies showed that the frequency was 1 per 2,500. However, the most recent studies, including one carried out on 34,910 newborn children in rhus, Denmark, indicate that the frequency is 1 per 2,000. Since there are about 29 million girls/women in Britain, there will be about 14,000 thousand with Turners syndrome.

What is the cause of Turner s syndrome?

Girls with Turners syndrome lack one or part of one of the so-called X chromosomes which carry the genes for development of ovaries, sex hormone production, physical sex development and height. The chromosome constitution 45,X, with one X in all cells, is found in approximately half of the girls with Turners syndrome. In about 20 % there is a normal chromosome constitution, 46,XX, in part of the cells and 45,X in the rest of the

cells - this is known as a chromosome mosaic. The rest of the Turner girls lack part of one X in all or part of the cells. Fig. 1. shows a Turner chromosome constitution with a so-called isochromosome X.

What causes the chromosome aberration in Turner s syndrome?

Certain chromosome aberrations appear more frequent in children of elder mothers and, to a certain extent, also elder fathers, but this does not appear to be the case in Turners syndrome, and today nothing is known about causes leading to the lack of one or part of one X chromosome.

Does a newborn Turner girl present any Turner signs?

Approximately half of newborn Turner girls with 45,X in all cells and approximately 10% of girls with other chromosome constitutions have edema (puffiness) of the back of their hands and feet. This is in accordance with some 30% of all newborn Turner girls having edema of the back of the hands and feet. The edema is most probably due to insufficient development of the lymphatic system. Such edema is only seen in Turner girls. The edema usually disappears in a matter of weeks or months. Nevertheless, some Turner girls have edema on the back of the feet for several years, and a few have periodic edema of the back of the feet, and, in a few cases, also of the back of the hands or underarms. The edema occurs most frequently and causes most discomfort in warm weather and can occasionally occur in connection with the commencement of estrogen or growth hormone treatment. It is important that the parents are informed that this edema is harmless and usually disappears shortly after birth. If the parents are not informed of this, it can give rise to unnecessary worry. There may also be relatively pronounced skin folds in the neck which usually disappear rather quickly. In rare cases there is a broad neck or more permanent skin folds, so-called webbing on both sides of the neck. If these folds are still present at pre-school age and if they are cosmetically disturbing, they can be surgically removed by a plastic surgeon, but such an operation is rarely necessary. As there is a risk of disfiguring scar formation (keloid formation), it is important that the operation is carried out by a plastic surgeon with experience of this sort of operation. Apart from these conditions, one cannot see if a newborn girl has Turners syndrome. A diagnosis of Turners syndrome is not always made in girls with edema of the hands and feet, but if all doctors were aware that these were indications of Turners syndrome, this would ensure that at least one third of Turner girls were diagnosed at birth. The only way to ensure that all Turner girls were diagnosed at birth would be to undertake chromosome examinations of all newborn babies. This would also lead to the detection of all children with all forms of chromosome aberration. Fig. 2. shows Regina with edema on the backs of her hands and feet. The edema disappeared after a few months. The neck-webbing was surgically removed when Regina was 12 years old, as shown in Fig. 10. on page 37.

How do Turner girls develop during childhood?

Approximately half of Turner girls have thriving problems during the first year of life, especially in connection with regurgitation and vomiting. But these problems usually disappear during the second year of life. In rare cases there may be a constriction of the connection between stomach and bowel, a so-called pyloric stenosis. It is important that parents of Turner girls know that they often have these problems with regurgitation and vomiting in infancy to a greater degree than other children, and that they are informed that it does not continue and does not lead to any serious disorders. Many parents who were not provided with this information have quite understandably been worried, and these worries may have a negative effect on Turner girls mental and physical development during early childhood.

Fig. 2. "My name is Regina and Im 9 years old. When I was born, I had puffiness of my hands and feet and I had too much skin on my neck (neck-webbing). When the doctor at the hospital saw this he told my mother and father that I was a Turner girl."

Diagnosing Turner girls

There are many reasons why Turner girls should be diagnosed at birth or at the latest when they are 7 or 8 years old. The most important reason is to ensure that the parents, at as early a stage as possible, are provided with the best and most comprehensive information about everything concerning Turners syndrome, as described in this book, thus enabling them to avoid unnecessary worries. It is also important that Turner girls are offered growth hormone treatment from the age of about 6 or 7 years, and perhaps Oxandrolone treatment from the age of 9 to 12 years as well as small doses of estrogen when they are 12-13 years, after they have received at least 2 years of growth hormone treatment (as described on page 32). Similarly, it is of great importance that the Turner girls themselves are provided with correct and comprehensive information about Turners syndrome as they grow up. As is described in the section about Turner contact groups, it is of inestimable importance that parents have the opportunity to participate in a Turner contact group. This can save the parents a great many worries, and help them to avoid overprotecting and infantilizing their Turner daughter. Instead, they will be able to provide her with an active and stimulating upbringing, an upbringing in which they first and foremost treat her in accordance with her age and not according to her height. All girls with edema of the back of hands and feet at birth and all with delayed growth and one or more signs of Turners syndrome should have a chromosome examination made. The results of a chromosome examination will always show whether or not it is a Turner girl.

Do Turner girls suffer from special disorders during childhood or later in life?
Approximately one in 15 Turner girls is born with a stenosis (constriction) of the aorta (the main artery). This is a disorder which is usually diagnosed during the first year of life or early in childhood. If the stenosis is

pronounced, it has to be operated on, and this can be done with very little risk, and leads to completely normal cardiac function. Many parents, who have heard about the risk of aortic stenosis, will be afraid that such a stenosis may arise later in life. It is thus important that the parents are told that this is not the case. If the stenosis is not present in the earliest childhood, there is no risk that it will appear later in life. The most frequently occurring cardiac aberration, which is seen in approximately 1 in 10 Turner girls, is fewer heart valves than normal. This has no significance for cardiac function in childhood or adolescence, but later in life it can precipitate calcification of the heart valves, which can lead to reduced heart function. With certain forms of heart valve problems there may arise a need for penicillin treatment in connection with some forms of dental treatment. In a recent Danish cardiac examination of 130 Turner girls and women, it was found that 29 of the 130 women (22%) showed one or more cardiac aberration; 8% showed aortic stenosis, 14% had heart valve aberrations and 1% had other cardiac aberrations. Therefore, all Turner girls, on being diagnosed, should undergo a special ultrasonic examination of the heart which is known as echocardiography.

Fig. 3. Electrocardiography in connection with echocardiographic tests at the cardiological department of Skejby Hospital, rhus, Denmark. Gitte Svenningsen helps with the tests on Anja. Both girls have Turners syndrome. The tests were carried out by Consultant Bent stergaard Kristensen.

Girls with Turners syndrome have an increased risk of inflammation of the middle ear, and it is important that any form of middle ear infection is treated very efficiently as these girls, apart from the effect of repeated middle ear infections, have an increased risk for decreased hearing. Moderate decreased hearing is found in approximately 20% of all Turner girls. The tendency to reduced hearing appears to increase from 20% at the age of 8 years and up to half or more of Turner women about the age of 50, and as many as one out of five adult Turner women can benefit from a hearing aid. In 1963 Lindsten found hearing loss in nearly half of 57 Turner women and, in a recent study from 1990, Sculerati and co-workers found hearing loss in as many as 16 out of 22 adult Turner women, which was conductive in 36%, sensory neural in 14% and of mixed etiology in 23%. Hearing should therefore be checked regularly into adulthood since an undetected reduction in hearing can affect learning and development. About 20% of Turner girls have deviations in development of the kidneys in the form of a double kidney, double urinary tract or deviation in kidney form. These deviations hardly ever lead to any disorders, and apart from the above mentioned conditions, there is no increased risk of disorders in childhood or later in life in girls with Turners syndrome.

How is height development?

Turner girls grow more slowly than other girls almost all through the growing period and this lack of height increase is the most common reason for parents of a girl with undetected Turner syndrome to contact a doctor. Already at birth the average height of Turner girls is a few centimeters less than that of normal girls, and because the rate of height increase is slower than normal after a couple of years, Turner girls gradually become

shorter, relative to other girls of their own age. Most Turner girls are shorter than the average from the age of 5, and by the age of 12 more or less all of them are below average height. Turner girls' height increase is shown in the two graphs in Fig. 4A og 4B. dealing with growth velocity (the rate of height increase) and height compared to other girls, respectively. Fig. 5. shows Turner girls' height as a percentage of normal height. Turner girls do not experience the rapid increase in height which is usually seen around puberty, and in Denmark the end result is an average height around 20 cm below the average of normal women. In Denmark adult Turner women are on average 147 cm with variations between 133 and 162 cm. In UK and USA the average height is 143 cm. Reduced height is usually one of the aspects of Turners syndrome which causes Turner girls and women most concern, particularly when they are in the process of growing up. An ongoing study at the Turner Center in rhus indicates, however, that there is no connection between Turner womens final height and their capacity to get on in life.

Fig. 4A. Growth velocity development in untreated Turner girls. (R.W. Naeraa & J. Nielsen, 1990 and J. Karlberg, K. AlbertssonWikland & R.W. Naeraa, 1990.)

Fig. 4B. Height development in untreated Turner girls. (R.W. Naeraa & J. Nielsen, 1990 and J. Karlberg, K. Albertsson-Wikland & R.W. Naeraa, 1990.)

Fig. 5. Turner girls height as a percentage of normal height. (R.W. Naeraa & J. Nielsen, 1990 and J. Karlberg, K. Albertsson-Wikland & R.W. Naeraa, 1990.)

Can anything be done in order to increase height?

Growth hormone is a naturally-occurring hormone which is administered in the form of subcutaneous injections. Nowadays it is manufactured biosynthetically. Turner girls do not lack growth hormone, but treatment with this hormone can nevertheless increase their growth velocity and probably also their final height by about 5 to 10 cm, depending on the duration of the treatment. Growth hormone treatment of Turner girls is standard in Denmark from the age of 6 or 7 years until growth has virtually come to a stop. Figs. 6 and 8 show Regina practising injections and Cecilia taking her daily injection.

Fig. 6. "My name is Regina and Im 9 years old. I felt that taking my growth hormone injection was a bit difficult in the beginning, but I practiced with an orange and after a while I found out how to do it, and now its just a habit like brushing your teeth."

Oxandrolone is a synthetic hormone which resembles male sex-hormone, and although it exhibits the tissuebuilding qualities of the latter, its virilizing effect is very weak. When used alone, Oxandrolone can increase growth velocity to the same degree as growth hormone, and final height is increased by 3-4 cm when given over 2 years. In Denmark we prefer to give Oxandrolone in a very low dose together with growth hormone and not to begin with Oxandrolone before 10 years of age, but in some other countries treatment is begun before that. Estrogen (female sex-hormone): When administered in very small doses estrogen can increase growth velocity without affecting final height. In any case, estrogen should be given in order to induce pubertal development, as will be explained below. It can be given from the age of 12 or 13 years, providing it has been preceded by at least 2 years of treatment with growth hormone, and providing the body is ready for pubertal development. (see page 32) Combination treatment. In Denmark we have 2-3 years experience with growth hormone alone and growth hormone in combination with small doses of natural estrogen. Growth hormone together with estrogen increases growth velocity more than estrogen alone, but probably not more than growth hormone alone. Final height is probably increased to the same extent as with growth hormone alone. There is now a considerable body of results from treatment of Turner girls with growth hormone alone, and a number of results from treatment with growth hormone in combination with Oxandrolone. We have chosen to show the results from a 4-year American study by Rosenfeld and co-workers (1988, 1990), where part of the treatment consisted of growth hormone alone and part consisted of growth hormone in combination with Oxandrolone. Fig. 7. shows growth velocity in Turner girls under treatment with growth hormone alone and growth hormone in combination with Oxandrolone. As can be seen from Fig. 7 (page 24), growth velocity is greatest with combination treatment with growth hormone and Oxandrolone as compared to growth hormone treatment alone. After 3 years of growth hormone injections 3 times per week, the frequency of treatment was changed to daily injections, which gave better results.

After 4 years, the average height for the 20 Turner girls over 16 years of age was more than 150 cm and many of these girls are still growing.

Fig. 7. Growth velocity for Turner girls under growth hormone treatment and growth hormone plus Oxandrolone treatment, respectively. (R.G. Rosenfeld and co-workers, 1988.) With permission from R.G. Rosenfeld, Stanford University School of Medicine, USA.

Fig. 8. Cecilia takes her daily growth hormone injection.

A similar Swedish study by Nilsson and co-workers (1989), involving 14 Turner girls, showed that 11 of the 14 were over 150 cm after 3 years of combination treatment with growth hormone and Oxandrolone and several of these girls are still growing. The results of these and other studies indicate that final height can be increased by 5-10 cm with growth hormone and Oxandrolone treatment. But not enough of these girls are fully grown yet to enable a precise

evaluation of the benefits of the various forms of treatment. The available results, however, do indicate that combination treatment with growth hormone and Oxandrolone give both a greater growth velocity and a greater final height than treatment with growth hormone alone. Do Turner girls always actually want to grow faster during childhood and become taller, or is this something doctors and/or parents want, in order to normalize for the sake of normalizing? In a social-psychological study of 115 Danish Turner women (Nielsen and Sillesen, 1981) and a recent followup of these women by Bente Konradsen and Johannes Nielsen (1991) we found no correlation between their height and mental health, social and work adjustment or quality of life. However, when members of Turner contact groups in Denmark are asked about the necessity of growth stimulating treatment, the great majority answer that they want to have the treatment, or that they would have wanted treatment, had it been available at the age when growth hormone could have been given. On the basis of new and relatively good possibilities for determining final height, as shown, amongst others, by Rune W. Nraa and co-workers in 1990, it may be that Turner girls with a predicted final height above a certain level, 155 cm, for example, will not need, or for that matter, will not wish to receive growth hormone treatment. At the initiation of growth hormone treatment in the rhus area there were 13 Turner girls over the age of 6, with bone age under 14 years, who were offered growth hormone treatment. Eight of them started the treatment. One 14-year old girl was 158.8 cm. and a 16- year old girl was 153.3 cm, and both of them were very satisfied with their height. The parents of three of the 6-year old girls expressed a wish to wait until the girls were seven, before commencing treatment. Side-effects: There are no particularly known side-effects with the three above-mentioned hormones at the dosages used today. Growth hormone treatment is a new form of treatment, so possible long-term effects are not known, but none are anticipated, and so far there have been no indications that side-effects will arise. Oxandrolone has been known to give rise to mild side-effects when used at higher dosages than those used at present in the treatment of Turner girls, due to its connection with male sex-hormone. However, no such sideeffects have been reported with the doses used in the above-mentioned treatment. Glucose metabolism in the blood is affected by Oxandrolone but diabetes has not been observed. Nevertheless, Turner women who have received the above-mentioned preparations during childhood should have check-ups at suitable intervals until any possible long-term side-effects of growth hormone and/or Oxandrolone can be discounted. Here in Denmark we have carried out extensive psychological studies before, and one year after, treatment with growth hormone and small doses of estrogen. Interim data from these studies give no indications of any form of negative effects on the girls mental development. There is, however, a need for further psychological studies of the type referred to above, also in connection with the cessation of growth hormone and Oxandrolone treatment. The optimal treatment appears at present to be growth hormone alone from an early age (around 6 years) supplemented with Oxandrolone from the age of 10. After 3 years, Oxandrolone is replaced with very low doses of estrogen, which are gradually increased. This procedure is described on page 32 and appears in more detail in two pamphlets by Naeraa, Kastrup and Nielsen on estrogen treatment of teenage Turner girls and adult Turner women, respectively. These pamphlets, which are listed under Turner literature on page 94, are available from the Turner Center in rhus. Finally, it is worth mentioning that very large increases in height have been achieved for Turner girls with leglengthening operations (20-25 cm), but this treatment is a long-term process and very taxing, both physically and mentally. This method has not so far been employed in Denmark.

How do Turner girls get on at school?

The distribution with regard to school level does not deviate from what can be expected. In a major Danish study by Johannes Nielsen and co-workers (1977) of 45 Turner women and their sisters, 7% had attended special classes and 22% had at one time or another received some remedial teaching in one or several subjects for a longer or shorter period. This is in accordance with the norm in Danish schools. In this Danish study, approximately one quarter had attended college, and their school results corresponded to those of their sisters; three quarters of the girls were on or above the average in their class, but slightly less than

half had had difficulties with mathematics. These difficulties are mainly due to the problems Turner girls have in solving spatial problems. As a consequence, they have certain problems with mathematics and with nonverbal tasks in general. Three quarters of the girls with Turners syndrome were above the average with regard to diligence at school, and only l/10 were below average in this respect. There are many examples to show that Turner girls are very diligent and conscientious with regard to their school work, and these traits are clearly more common than in sisters and girls in general.

What do their teachers say about their school performance?

Most Turner girls in the above mentioned Danish investigation were described by the teachers as average in their class, but very diligent and with good relations to teachers and classmates. A typical teachers description of a girl with Turners syndrome is the following: "Grethe works with great diligence and interest. She is very careful with her work and eager to do her school work as well as possible. She has a very good influence on her classmates due to her friendly, quiet behaviour and positive interests." The following description was given when Grethe finished school: "Grethe has always worked very hard with her homework. She works rather slowly, but carefully. The level of her self-confidence has been rather low, and she has always had to feel quite sure before she answered any questions. Her energy and stubbornness have, however, helped her to achieve good results. She has had certain difficulties with mathematics."

How are their relationships to classmates and teachers?

Good or very good relationships to classmates were found in three quarters of the girls in the previously mentioned Danish investigation of Turner girls, and good or very good relationships with teachers were registered in 98% of the girls. Some of the girls had, however, periodically been teased on account of their short stature. In such cases it is helpful for Turner girls to have the opportunity to give a lecture in their class about why they are short of stature, and what Turners syndrome is. This can also be done with the assistance of an adult Turner woman from the local Turner contact group. Fig. 9. shows Cecilia and Gitte together with their schoolfriends.

How is their personality development?

Turner girls are often retarded in emotional maturity - they become "adult" somewhat later than their sisters and girlfriends. Characteristic personality traits for Turner girls are, however, extroversion, a good and stable mood, diligence and conscientiousness. A sense of order, meticulousness in dressing and appearance are also characteristic traits. In the Danish investigation mentioned we found that 85% of the girls who had had an authoritative and/or overprotected upbringing were emotionally relatively immature, compared to only 42% of those who had had an upbringing which stimulated them to activity and independence according to age and not according to stature. We found that overprotection of Turner girls by their parents was clearly connected with tendencies to mental problems in these girls. It is understandable that parents of girls with Turners syndrome, who are short of stature and often emotionally somewhat immature, have a tendency to treat them in an overprotective way, more according to stature than according to age. This is, however, very adverse, as it tends to reinforce the Turner girls in their emotional immaturity and dependence, instead of stimulating them to maturity and independence.

Do Turner girls have normal intelligence?

In the above mentioned Danish study by Nielsen and co-workers, we found normal intelligence in 94% of the girls, and that is in accordance with what was found among their sisters. There is thus no intellectual defect in Turner girls/women, but they have their best performance in the verbal area, and they have certain difficulties in

spatial conditions, in certain forms of mathematics, for instance. These difficulties can, however, be overcome, partly by providing Turner girls with good information and making them aware of this problem, and partly by special efforts from teachers, as well as interest and diligence on the part of the Turner girls and support and help from their parents.

What about education and job adjustment?

Turner girls are on a par with their sisters with regard to education levels and job selection, especially if they have grown up under good and stimulating conditions. Distribution according to profession does not deviate remarkably from that of their sisters. The shorter stature may lead to problems in certain fields of employment, but on the whole, Turner girls can choose and manage any job or study. On the whole, Turner women are as stable, and are as good at their jobs as their sisters. Furthermore, there are no indications of a higher rate of unemployment for Turner women than for other women.

Do they have a normal pubertal development?

By far the majority of Turner girls do not enter puberty unless they are treated with female sex hormones (estrogens). The reason for this is the same as for childlessness: the unfertilized eggs in the ovaries are usually destroyed already in infancy, and normally it is these eggs which produce the estrogen required to start the process of puberty. A number of Turner girls do have spontaneous development of pubic hair but this is caused by hormones from the adrenal glands and is not an expression of "real" puberty. Estrogen treatment, in very small doses, is started on from the ages of 12-13 years at the earliest and is usually given in tablet form as described on page 32. In the course of this treatment Turner girls develop normal breasts, pubic hair and have a normal female development in general. Within about two years, depending upon how rapidly estrogen doses are increased, menstruations will begin to appear. The treatment also appears to stimulate psychological maturing, which is of great importance because, as already mentioned, Turner girls often have a delayed psychological maturity.

Can they have spontaneous menstruations?

Approximately 25% of Turner girls, especially those with a 46,XX cell-line, do get spontaneous menstruations for a shorter or longer period without previous treatment with sex hormones, but the rule is that they do not have menstruations before treatment with sex hormones is started. Those who do get menstruations, however, usually stop within a few months or years. Nevertheless, a few Turner women with chromosome-mosaic and a 46,XX cell-line do have spontaneous menstruations for many years.

How should female sex hormone be administered?

As previously mentioned, it is necessary to give Turner girls sex hormone (estrogens) in order to get a normal pubertal development. Estrogen treatment should be continued at least until they are in their fifties. There are several reasons for this. Many Turner women feel better when they get estrogen. Estrogen is also of importance for sexual life because lack of estrogen can cause dryness and irritation in the vagina. There is an increase in the risk of decalcification of the bones and most probably also an earlier appearance of heart and vascular disorders if estrogen is not given. Treatment can be commenced already at the age of 12 to 13 if bone age is above 11 years and a pronounced increase in the blood content of the follicle stimulating hormone (a hormone from the pituitary gland) has appeared. The latter is a verification of the fact that menstruations will not appear spontaneously. Estrogen treatment should also be preceded by at least 2 years of growth hormone treatment. Estrogen is usually given as tablets, but can also be given as skin patches or injections. Initially, a very low dose is given with gradually increasing doses. After a couple of years vaginal bleedings will occur, and at this time

the treatment schedule is changed from continous to cyclic (pausing with estrogen one week each month). This usually gives regular monthly bleedings. When estrogen has been given for maximum 4 years, progestogen is added. Progestogens correspond to the natural hormone progesterone, which together with estrogen is involved in controlling the normal menstrual cycle. Progestogen must always be given together with estrogen (at least 10 days each month), as estrogen given alone increases the risk of uterine cancer dramatically. Progestogen can only be omitted in the early phase of estrogen treatment, or if the uterus has been removed. Side effects are not uncommon, but although unpleasant, they are nearly always harmless. They include irregular bleedings, fluid retention, mental symptoms and nausea. Often they disappear after a few months of treatment, and any treatment should be evaluated over a 3 month period. In the event of side effects with estrogen tablets, shifting to estrogen skin patches may help, as the content of estrogen in the patches is much lower than in the tablets. Side effects, however, can also be due to the progestogen, and in this case a shift to another type of progestogen may be beneficial. For some women it is necessary to try several different preparations before an acceptable treatment is found. The experience with estrogen treatment in Denmark is based on micronized 17-beta estradiol (E2) (natural estrogen). In most other countries ethinylestradiol (artificial estrogen) (EE) is used. (The equivalence of 1 mg E2 is 12,5 g EE). We have seen abnormal liver function tests in several Turner women, and there are indications that these increase with age, without being connected with any disease or with estrogen treatment. There is thus no reason to stop estrogen treatment because of this, nor should it lead to any suspicion of alcoholism. Further information about estrogen treatment of teenage Turner girls and adult Turner women can be found in the two booklets by Naeraa, Kastrup and Nielsen (1990), which you will find in the Turner literature on page 94, and which is available from the Turner Center in rhus.

Can they have a normal sexual life?

Mothers of girls with Turners syndrome often ask if they can be sure that their daughter can have normal sexual relations when she lacks one of the two sex chromosomes. Some of them are afraid that their daughter may become lesbian. The answer is that Turner women can have as normal sexual relations as other women, and certain mothers fears that Turner girls/women should have a greater risk of becoming lesbian than other women are completely unfounded. Normal sexual relations presuppose continuous hormone treatment for most Turner girls (estrogen/progestogen treatment), but a few Turner women have such pronounced side-effects from this treat-ment that they prefer not to have it. In such cases, as previously mentioned, one might try to give estrogen treatment in the form of estrogen skin patches, which need to be changed twice a week. At the same time progestogen should be given as tablets.

Can they have children?

Women with Turners syndrome may live together with a boy-friend or marry and have as good a marital and sexual life as other women, but they rarely have children. The reason is that the ovaries, due to the lack of an X chromosome, are undeveloped, and only in relatively rare cases are ova present in the ovaries. However, some Turner women can have children. In the literature there are 62 cases of Turner women who have had 138 pregnancies and 82 liveborn children; the great majority of these women had chromosome mosaicism with a 46,XX cell line. In Denmark, with approximately 1,300 Turner women of all ages, we know of 12 women with Turners syndrome who, in total, have had 30 pregnancies and have given birth to 22 children. 11 of these 12 Turner women have a 46,XX cell line in some of their cells. There are most probably several more undiagnosed Turner mothers with few signs of Turners syndrome, 46,XX in the great majority of their cells and only 45,XX in a small percentage of cells. A few Turner mothers with 45,X in all cells have however been described.

Cecilia with her schoolfriends.

Gitte with friends (1982). Fig. 9. Cecilia and Gitte with schoolfriends.

Fig. 10. Regina before and immediately after her operation for neck-webbing.

The chance of becoming pregnant for all Turner women is not known yet, but it varies most probably from less than 1% for those with 45,X in all their cells to approximately 25% for those with a 46,XX cell line, even if the

fertility period usually is relatively short. The general frequency of pregnancies in Turner women is probably around 5%. A survey of Turner women with children is published in Turner News, 1990, which is available from The Danish Turner Center in rhus.

Can they adopt children?

Turner women can adopt children on an equal footing with others, providing they and their spouses meet the requirements for adoption. This is very important to tell to newly diagnosed Turner girls and women as well as to parents of Turner girls. Investigations carried out prior to permission for adoption being given can be a strain, however, and in general it can be difficult to get a child, even though permission has been given for adoption. Moreover, adopting a child from abroad can be relatively expensive. Ingelise Jacobsen recounts her own experiences: "I have been asked to write a little about my own experiences as a Turner woman in adopting a child, and about an operation I have recently undergone. Im 47, I got married in 1968 at the age of 24. Since we both believed that a real family includes children, and since there seemed to be no prospect of us achieving this by natural means, I contacted my doctor, who sent me on to the Royal Hospital in Copenhagen. I was examined and sent home with the news that I had no fallopian tubes and that I lacked certain hormones. (Prior to this I had no idea that I couldnt become pregnant). We were advised to adopt. I went to "Mothers aid" in Copenhagen but they wouldnt even give us a preliminary examination. We were a bit taken aback at this. Then we got in touch with the Association of Foster Homes on Funen and were treated to a much more positive reception. We got under way with our application to adopt a child from abroad and our case ground its slow and weary way through the various offices. We went to a medical examination. Our economic circumstances were investigated. Our home was visited and our relationships to family, friends, leisure and, not least, children, were discussed. We were overjoyed when we were granted permission to adopt a healthy little girl, aged 7 months, in 1974. We collected her in April 1975. I cant possibly imagine that the thoughts and experiences one has are any different from those of a couple who give birth to their own child. Its such a beautiful and intense experience to stand there with a little baby and know that youre responsible for it. In the autumn of 1976 we agreed that we would try to apply for a little brother. We didnt think that our daughter should be an only child. Things went well with the various tests and investigations this time, too. We had a visit from the doctor from the regional council, and for the first time, at the age of 33, I heard the doctor tell me that I had Turners syndrome. To our great joy we were granted permission to adopt again and after a long period of waiting we were able to collect our little boy from Copenhagen airport. At that time he was nearly 3 and our daughter was 4. Today she is 16 1/2 and he is 15. On the whole we would say that things have gone well. Of course its inevitable that parents and children quarrel now and then, especially when theyre at the age they are now. On the question of my recent operation, perhaps I quickly ought to mention that I was operated on for aortic stenosis (constriction of the main artery) when I was 14 or 15 and have been fine since. In 1978 I got sick. Some time passed before the doctor discovered what the problem was. In February 1979 I was admitted to hospital with a blood infection which they said was due to a faulty heart valve. I went to check-ups for years after that. Now and then they said at the hospital that at some point I would probably have to have a new heart valve. After preliminary tests in the winter of 1989, I was operated on in May 1990 and everything went fine. There were some complications, however, and I had to wait 7 weeks before I could come home again. I have had a few emotional problems for various reasons, but apart from that Ive been fine since the operation. Ingelise Jacobsen

Can they have in vitro fertilization?

The great majority of Turner women have no eggs in their ovaries. So far we only know about one Turner woman in Denmark, who had in vitro fertilization with her own eggs. Egg donation from another woman is

nearly always necessary for Turner women, if they want to become pregnant with fertilization with their husbands sperm outside of the uterus, so-called in vitro fertilization. Or else they can have fertilization in their fallopian tubes with eggs from a donor and sperm from their husband. Egg donation from another woman is not yet permitted in Denmark. Transfer of embryos obtained from donor eggs to women who lack eggs in their ovaries (gonadal dysgenesis), including Turner women, leads to excellent implantation rates and normal pregnancies, as long as hormone substitution is adequate. A recent study by Cornet and co-workers (1990) shows pregnancies among 13 women with gonadal dysgenesis, including 5 with Turners syndrome, from 22 transfers (37%). Other recent studies show transfer rates from 27 to 37%.

Can they get egg donation?

Egg donation is permitted in Great Britain, Belgium and several other countries, but not yet in Denmark. The Danish National Association of Turner Contact Groups and the Turner Center have been working hard for a couple of years to get egg donation permitted in Denmark. The Danish government will take up the issue and decide whether or not egg donation should be made legal in the course of the spring of 1991. Sperm donation has been legal in Denmark for the last 30 years, and it is hard for us to accept that there should be any ethical difference between permission for egg donation and sperm donation. One of the Turner contact group members, Marianne Holm, tells here about her experiences of going to England to investigate the possibility of getting egg donation and in vitro fertilization over there. Marianne Holm tells: "My name is Marianne Holm. Im 27 years old and am married with Torben. I am a social pedagogue and work in this capacity in Aalborg, where we live. I was diagnosed as having Turners syndrome when I was 16 years old and my life was thereafter coloured by the fact that I would be childless. My desire to have a child has intensified over the years and we both have a strong wish to have a family some day. In 1988 we heard of Bourn Hall in England, where they perform in vitro fertilization with egg donation, i.e. one receives eggs from another woman, which is the only possibility for us if I am to become pregnant. After a lot of discussion we agreed to contact Bourn Hall and we were very pleased to get a reply after only a few weeks. We were informed that we were welcome to come to Bourn Hall for information and examination. We were rather nervous - would it be possible to get in vitro fertilization and egg donation. In June 1988 we went to England and were well received at Bourn Hall, where a doctor asked me a lot of questions and examined my uterus and Torbens sperm. Understanding the questions and conversation was not without problems, because the doctor wasnt English himself and didnt speak the language altogether fluently this made me rather nervous. The results of the tests showed that my uterus was of normal size and Torbens sperm of the best quality. We talked with the doctor and were told that egg donation and in vitro fertilization were possible. We returned to England with a positive feeling, knowing that it was possible to go to England for egg donation and in vitro fertilization. Since then we have been fighting to convince the Danish politicians that egg donation should be made legal in Denmark and we hope that this will be the decision when the bill on this question comes before the Danish parliament this spring." Marianne Holm

Is there an increased risk of mental illness?

In a Danish investigation of 82 Turner women (Johannes Nielsen and co-workers, 1981) mild previous or present mental problems were found in about 28%, and this is in no way more frequent than in the normal population. The frequency of actual mental illness in the same age group of Danish women as the Turner women studied is around 20%, and among the 82 Turner women examined there were none with actual mental illness. There was a clear connection between mental problems and the circumstances of growing up. Only 18% of the Turner girls with normal psychological development had had a stressful childhood, compared to 66% of

those who had mental problems. Stressful in this context most often implies lack of information about Turners syndrome, as well as overprotection, infantilization, teasing and lack of friends.

Is Turner s syndrome a disease?

No! Turner girls and women should definitely not be considered as patients. Heart disorders can be operated and cured, and the same is the case with webbing of the neck. These girls will manage well, or at least get on within the normal range, if they and their parents are provided with full information, if they grow up in a good and stimulating environment and receive adequate hormone treatment at the right time. On the other hand, there is no doubt that it may be hard to have Turners syndrome, even if one grows up in a good and stimulating environment. As it clearly appears from the description given by the members of the Danish Turner contact groups at the end of this book, short stature may lead, among other things, to teasing and discrimination of different kinds, and it is always very hard for a woman not to be able to have children. These conditions can, however, be remedied through early diagnosis, information and more information, acceptance of having Turners syndrome, contact with other Turner women through Turner contact groups, research into the possibility of increasing stature and into providing Turner girls with a more normal physiological and psychological development of puberty by optimal hormone treatment, and by opening possibilities for adoption and in vitro fertilization via egg donation from another woman.

What is it like to have a Turner daughter?

Many Turner parents would no doubt say that having a Turner daughter is not different from having a daughter without Turners syndrome. Others would say that the first year was very difficult because of their Turner daughters poor thriving with regurgitation, vomiting and crying etc. Others may have been worrying about their daughter having a serious heart problem, such as aortic stenosis. In other cases the appearance of edema of the back of the hands and feet, or the presence of neck-webbing may have been the source of worries. We have also met Turner mothers who, before they were provided with the right information, were worried that the lacking X-chromosome would mean that their daughter would not become a "real woman" and might not be able to have a normal sex-life. As previously noted, this fear is entirely groundless. Many parents, especially mothers, have worried terribly when they discovered that their daughter wasnt growing in the same way as her sisters and friends of the same age. In all probability the daughter has also suffered under the influence of maternal worry. We know of many cases where the family doctor, prior to Turners syndrome being diagnosed, has tried to calm the mother by assuring her that her daughter will start growing at some point later on in childhood - if not before, then at puberty. Its worth mentioning at this point, that Turner girls do not experience the typical growth-spurt in puberty (see page 20). Parents who have had problems with their daughter, without knowing what was the cause, would have had far fewer worries if they had been informed from birth, or at least in early childhood, that their daughter has Turners syndrome.

Should parents be given full information about Turner s syndrome?

Yes! Parents of Turner girls should always have full information. It is extremely important that the parents get as much information as possible about Turners syndrome as early as possible in the life of their daughter, preferably at birth. This is important for many reasons, but especially because it gives them the possibility of creating the best possible conditions for their daughter with Turners syndrome with maximal stimulation in all aspects, especially stimulation and promotion of independence as well as attempts to avoid overprotection and infantilization. A Turner girl should always be treated according to age and not according to decreased stature. It is therefore important that the diagnosis of Turners syndrome is made as early in childhood as possible so that the necessary information can be given to the parents.

Early and good information to parents of girls with Turners syndrome also gives the parents the possibility of informing their daughter and of answering her questions about why she deviates from other girls of her age with regard to stature and other conditions, as she grows up. Information to the parents should always be given by a person with a wide knowledge and a lot of experience concerning Turner girls as well as by Turner women, a person to whom the parents can come back, whenever they feel a need for more information and a person who has sufficient time and patience to listen to the parents and answer all their questions. If these conditions are fulfilled, the parents reaction to early and full information is always positive and appreciative. Parents can almost always manage to handle information and counselling concerning their Turner daughter in a very constructive way. They are saved many worries and speculations about the fact that their Turner daughter develops somewhat differently from her sisters and girl friends.

Should Turner girls be given full information?

Should Turner girls have information about all conditions concerning Turners syndrome, including chromosome constitution, hormone conditions etc? The answer according to our experience is definitely yes. It is clearly wrong to try to protect a Turner girl by avoiding telling her what the problem is. She will always try to find out about it by herself, and secretiveness on the part of parents and doctors can only lead to anxiety and decreased confidence in parents, doctors and adults in general. Fig. 12 shows 3 young Turner girls. It is our experience that Turner women, as with other individuals with sex chromosome abnormalities, have often been informed too poorly and too late. They have often formed their own impressions and have their own ideas about what is wrong, and this is usually much worse than being given the correct information. A Transcultural study by Johannes Nielsen and Marleen Stradiot (1987) of 111 Turner women, aged 17-30 years, from Belgium, Canada, Denmark, France, Germany and Hungary showed that only 33% had received information about Turners syndrome before the age of 15 years, ranging from 0% in Hungary to 52% in Denmark. Fifty-seven percent of those aged 15 years or over had been given complete information about Turners syndrome, 32% had been partially informed, while 11% had received no information whatsoever. Only 22% of the 111 Turner women were satisfied with the information they had received about Turners syndrome from their parents. This clearly illustrates the need for more and better information for Turner girls and women, both from doctors and from parents. At the Cytogenetic Laboratory and The Turner Center, in co- operation with the Turner contact groups, we have very good experiences with providing full information in close co-operation with the parents of the girls with Turners syndrome at a very early stage of life. We have contact with Turner girls who, already at the age of 810 years, have sufficient knowledge about Turners syndrome to give lectures at school about the reason why they are shorter of stature than other girls their age. Such lectures usually put a stop to teasing on account of decreased stature. This sort of information may also be given by Turner women from contact groups. Turner women diagnosed too late, for instance at 18-20 years of age or later, are always very much in need of and very interested in getting full information, and in all such cases they express their deep regret and often some bitterness that they did not get this information and knowledge much earlier. This would have saved them a lot of anxiety and worries about why they have been shorter than others, and why they have been late in developing breasts and secondary sex characteristics etc. Information about Turners syndrome helps Turner girls to accept and to be open about the fact that they have Turners syndrome, and this is very valuable. It is of great importance for Turner girls that they are informed about their delayed pubertal development, and this information should preferably be given before other girls of the same age reach the age of puberty, or in any circumstances at this point in time, at the latest. It is also important that they get full information about their relatively small chances of having children. At the same time one should tell them that their chances for adopting a child are as good as those of other childless women, and that to adopt a child can give as much happiness and success for both parents and child as for biological parents.

Fig. 11. Cecilia at height measurement.

Fig. 12. 3 young Turner girls.

All the positive aspects of adoption should be emphasized, and one should promise them support and help if problems should arise with the permission for adoption on account of short stature or chromosome aberration. At the same time one should also underline that they can have as good and as normal a sexual life and married life as other women. Information about the possibility of egg donation and in vitro fertilization should also be explained. The question of fertility should also be presented as a question of probability. Approximately 20% of girls with Turners syndrome get spontaneous menstruations, primarily those with a 46,XX cell-line, and when there are spontaneous menstruations there is also a chance of becoming pregnant. Turner girls with a 46,XX cell line should be told that if they are menstruating, there is a chance of getting pregnant, but their fertile period is rather short. In Denmark, with approximately 1300 Turner girls/women, we know of 12 Turner women who have had a total of 23 children (11 of these have a 46,XX cell line), but there are most probably several undiagnosed Turner women who have children. The chance for pregnancy is most probably around 5%, but mainly in those with a 46,XX cell line. According to a recent review, a total of 138 pregnancies in 62 Turner women have been described in the literature.

At the same time as the Turner girls are informed about the negative results of their chromosome aberration, it is also very important to provide information about the many above-mentioned positive aspects as well as of the present good possibilities for treatment of growth retardation during childhood and a more normal pubertal development during early estrogen treatment with development of breasts, secondary sex characteristics and menstruations at approximately the same time as other girls. A key word in the professional relationship to Turner girls/women is information - and not only superficial information given by a busy doctor with relatively little experience concerning Turners syndrome. Information about Turners syndrome ought to be given by persons with plenty of time who have a very wide knowledge and broad experience concerning Turners syndrome. Information should also be given by those members of a Turner contact group who have good knowledge of Turners syndrome, if there are such groups in the area.

Should the public have information about Turner s syndrome?

For several years now we have participated in various radio and television programmes and have given interviews to newspapers and weekly magazines about Turners syndrome and Turner contact groups. This book is used in many schools, and from the Turner Center we have given lectures about Turners syndrome to many different professional groups including nurses, midwives, doctors and others. In Denmark, public knowledge about Turners syndrome is much more widespread than it was just a few years ago. Information to the public about Turners syndrome should be given in close co-operation between Turner contact groups and doctors with an extensive knowledge of Turners syndrome. Better knowledge of Turners syndrome in the public will decrease the risk of discrimination against Turner girls/women on account of their growth retardation. Such discrimination is often due to lack of knowledge about why the persons one discriminates against deviate from others. It is our experience that the value of easily available information about chromosome aberrations of any kind cannot be overestimated, and this is clearly the case with Turners syndrome.

What information should parents be given when chromosome examination of amniotic fluid reveals that they are going to have a Turner baby?
36 out of 47 foetuses with Turners syndrome diagnosed by chromosome examination of amniotic fluid in Denmark between 1970 and 1988 were aborted (77%). It is difficult to believe that so many parents would choose to have an induced abortion of a foetus with Turners syndrome if they had been fully informed about the many very positive aspects concerning the development of Turner girls which are known at the present time from examination of large groups of Turner girls/women. There has, however, been a pronounced decrease in Denmark in the frequency of induced abortion of Turner foetuses from 100% in 1970-1980 to 60% in 1985-1988. This decrease is no doubt due, to a great extent, to the information provided by this book and to the intensive public relations work about Turners syndrome carried out by members of the Danish Turner contact groups, The National Society of Turner Contact Groups, The Turner Center and the Cytogenetic Laboratory in Risskov, Denmark. It is the parents who make the decision about whether they want to carry through the pregnancy with a Turner foetus or whether they want to have an induced abortion, but they make this decision on the background of the information given by the genetic counsellor and the stress he/she has placed on positive contra negative aspects of Turners syndrome, and to a certain extent also on the background of the attitude of the genetical adviser to abortion of a Turner foetus. It is very important that genetical counsellors stress the information about the normal intelligence of Turner girls and the results of studies which show that Turner girls school and educational levels are equally as good as those of their sisters. When information is provided about sterility and the small chances of having a child it is important to point out that the chances of adopting a child are the same for women with Turners syndrome as for others. One should also inform them about the possibilities of pregnancy via egg donation and in vitro fertilization which, however, is only legal in certain countries.

It is also important to make clear the fact that relations between adoptive parents and their children are as good as between biological parents and their children. One should tell them that women with Turners syndrome have as normal sexual and marital relations as others. When informing about the risk of heart disorders, especially aortic stenosis (constriction of the main artery), one should also tell them that this can be operated and cured completely, and that the same is the case with neck-webbing. The many positive aspects in the mental development of Turner girls should be stressed, that is to say that they have normal intelligence, they have good and positive personality traits, they are active, open, extrovert and have good contact with others. They are usually diligent, happy and have a very good social adaptability in general. Furthermore, they have a remarkable ability to cope with stress and adversity. As adults, they are generally as healthy as their sisters and live a normal social life in stable relationships. They are also as stable and good at their jobs as their sisters, and there are no indications that they are unemployed more often than other women. To hint at or have the attitude that foetuses with Turners syndrome should be aborted is, in our opinion, a clear discrimination against women with Turners syndrome around the world, women who are usually mentally and physically healthy and as intelligent and well-adjusted as their siblings.

Information for minor Turner girls

In 1989 a Turner contact group in Aalborg, Denmark, in co-operation with Regina, a nine-year-old girl, and her parents, wrote a booklet especially for Turner girls aged 6 to 12 years. In this booklet Regina tells what its like to be a Turner girl, and how it is to start on growth hormone treatment. The booklet is entitled: "I am a Turner". It is listed amongst the Turner literature on page 95 and is available in English from the Turner Center in rhus. Regina has recently sent us the following account: "My name is Regina and Im 12 years old. When I was born I had puffiness of the hands and feet and neck-webbing. This is how my parents got to know that I was a Turner girl. I did have frequent infections of the middle ear, but Ive grown out of them now. I have been treated with growth hormone since I was 8, and Im very happy about this because Ive grown well on it. Of course it can be a bit annoying, having to take the growth hormone injection every day. I like going to school, even if I do have difficulty with mathematics. In the beginning writing was also difficult for me, but now my handwriting is really quite nice (as Regina demonstrates with her handwritten letter). Six months ago I was operated on for neck-webbing and the results have been good. Im altogether a very happy and satisfied girl, even if I do have Turners syndrome, which is something I dont think about much." Fig.10 shows Regina before and soon after her operation for neck-webbing. se Ejlertsen has recently finished an information book: "Cecilia and her friends. A Turner girl in Denmark". The book is designed for Turner girls between the ages of 3 and 10, with 10-year old Cecilia as the central character (see Figs. 8, 9 and 11). This book is also available, free of charge, from the Turner Center in rhus.

Nordic and International Co-operation

The 1st International Turner Contact Group Meeting took place in rhus in 1988; it involved the participation of Turner parents and Turner girls and women from 15 countries and was a great success. A book of the proceedings from this meeting is available from the Turner Center in rhus. At the above-mentioned meeting we agreed to hold the 2nd. international Turner contact group meeting in 1991. It was later decided that it should be in Zaragoza in Spain from the 25th to the 28th of September 1991. At the rhus meeting the question of an international Turner contact group association was discussed. The conclusion was, however, that it was too early to start such an organisation as long as only 5 out of the 15 participating countries have a national association of Turner contact groups. It was agreed upon that the discussion concerning this question should continue in Zaragoza in September 1991. In Denmark we have stressed the point that we ought to have a Nordic association of Turner contact groups before we enter an international association. At the moment, however, we are not quite ready for a Nordic association either, since so far only 3 of the 5 Nordic countries have Turner contact groups.

At a Nordic Turner contact group meeting in Oslo in May 1990, however, we agreed on close Nordic cooperation concerning research, Turner contact groups and all matters connected with Turners syndrome. In this connection it is worth mentioning that members of the Norwegian Association of Turner Contact Groups have visited us several times at the Turner Center, with a view to establishing a Turner Center in Norway. A meeting concerning Nordic Turner co-operation with a Turner representative from each of the 5 Nordic countries will take place in Sweden in April, 1991. At the Danish Turner Center in rhus we have a comprehensive international co-operation. This is based on a number of factors: Turner research publications in various international journals; participation in international meetings and symposia on Turners syndrome; the publication of this book in 13 foreign languages, and on the fact that the international journal, "Turner News", is published from the Turner Center in rhus. At this juncture we should perhaps mention that we would like to receive articles and news concerning Turners syndrome and Turner contact groups for publication in "Turner News". Every week we get requests from other countries asking for information material about Turners syndrome as well as questions about Turner problems of different types.

The Turner Center in rhus

In 1986 Johannes Nielsen was awarded a Turner prize from the Danish National Association of Turner Contact Groups. On the basis of this he took the initiative to establish a Turner Foundation and a Turner Center for counselling, information and research. His prize became the first contribution to the Turner Foundation, which by now has received financial support from many sources including Kabi Pharmacia, Novo Nordisk A/S, the Danish Ministry for Social Affairs and The Danish Lottery. The Center has so far been housed at the Cytogenetic Laboratory, rhus Psychiatric Hospital. Johannes Nielsen is head of the Center and Bente Konradsen is consultant. The Turner Center is described in the proceedings of the 1st International Turner Contact Group Meeting in rhus, September 1988, and the work at the Center has also been described in Turner News, no.2, 1990. The board of trustees of the Turner Foundation, which runs the Turner Center, consists of four Turner women, one of whom is the chairman, one Turner mother and two doctors. The Turner Foundation is a non-profit making organisation whose aim is to finance the activities of the Turner Center. Since the establishment of the Center, a comprehensive counselling service has been provided for Turner girls, women and parents in general, as well as for parents who have undergone prenatal examination and who have been informed that they are going to have a Turner daughter. Counselling has been given for Turner girls in puberty and Turner women with various social, economic, educational, employment or psychological problems or questions related to adoption, egg donation and in vitro fertilization. We have worked intensively with information about Turners syndrome and Turner contact groups. Apart from this book, the pro- ceedings of the first Turner contact group meeting in rhus, 1988, and Turner News, we have also written information books about Klinefelter and XYY-males, as well as Triple-X women. These books have also been translated into several languages. We have taken the initiative to establish a Klinefelter and Triple-X contact group in rhus and we have close contact with Klinefelter contact groups in other countries. We have been teaching and giving lectures about conditions concerning Turners syndrome for various groups who have professional contact with Turner girls/women and parents. We have visited schools where there is a Turner girl among the pupils and talked about Turners syndrome and we have given lectures to medical students about Turners syndrome. Interviews have been given to newspapers, magazines, radio, television and others. Bente Konradsen has participated in international meetings in The United States, Italy, Germany and Norway, where she has talked about Turner contact groups, about the workings of the Turner Center and about Danish Turner activities in general. In the field of Nordic Turner co-operation we have supported the association of contact groups in Norway in their efforts to establish a Norwegian Turner Center.

As far as research is concerned, we have participated in the initiation of a number of Turner research projects. In Turner News no.2, 1990 (available from the Turner Center in rhus), there is a survey of books, reports and reprints concerning completed and on-going Turner research at the Cytogenetic Laboratory and the Turner Center. There is no doubt that the establishment of the Turner Center and the work undertaken there has increased the level of information in Denmark and most probably also in the other countries, where this book, other information material and research results from the Cytogenetic Laboratory and the Turner Center have been published. Comprehensive counselling has been provided, not only in Denmark, but also on request from Turner families and Turner women in several other countries. Turner research has been significantly intensified due to the initiative and resources of the Turner Center. Fig. 13 shows the personnel at the Turner Center in rhus.

What are Turner contact groups?

The members of Danish Turner contact groups are Turner girls and adult Turner women as well as parents of girls with Turners syndrome. They meet four to eight times per year. They talk about problems and experiences they have in common, whether these be short stature, need of hormone treatment, webbing of the neck, cardiac disorders, adoption or egg donation. They get acquainted with each other, they make new friends, and they have a nice time together. They invite doctors and others, who can tell about Turners syndrome and answer questions.

When did the Turner contact groups start in Denmark?

It started at the Cytogenetic Laboratory in rhus on March 23, 1981, during a conversation with the mother of an 11-year old girl with Turners syndrome and mental problems (we may call her Pia). During this conversation the mother told how she and her husband had read Johannes Nielsens book: "Chromosome aberrations. Diagnosis, treatment, counselling and prenatal examination. An overview". After reading this and talking with Johannes Nielsen they had decided to follow the advice in his book and had opted to go in for full information concerning Turners syndrome for their daughter and her teachers, friends and relatives. This decision had already helped them and their daughter a great deal, and now they wanted to share this experience with other parents of girls with Turners syndrome. Contact was established between this family and another family, who had a daughter with Turners syndrome of the same age, but without psychological problems - a family, who had also talked about how they would like to meet another family with a Turner daughter.

Examples of what happened in the rhus group

Seven months later Pias mother told how during this period Pia had changed very much for the better, especially after her contact with the happy, extrovert, well-functioning Turner girl friend. They had become very good friends, and Pias problems at school had practically disappeared at that time. She had become lively and extrovert.

Fig. 13. The personnel at the Turner Center in rhus. Bente and Johannes.

Fig. 14. Turner girls at a contact group meeting in rhus, 1982.

Both she and the girl friend had read the book: "Chromosome aberrations", and they had given a lecture in their school about why they were short of stature and about Turners syndrome in general. This had created a definite positive change in their relationship to the other children at school. The previous teasing for both of them had stopped, and they were now much better accepted at school. A letter was then sent to two more families with Turner daughters, and the first Turner contact group in Denmark was in full development with great enthusiasm from the participants. Letters were later sent to all the known Turner girls on Jutland. This involved parents of minor Turner girls and adult Turner women and in the course of a few months the group grew to its present size of about 20 Turner girls and parents of minor Turner girls. In May 1982 Johannes Nielsen contacted other Turner families on Jutland concerning information about the Turner contact group in rhus. One mother to a Turner girl told of how only after what she called "nine years

struggle with the doctors" did they accept that there "was something wrong" with their daughter (we may call her Lene). Already when Lene was 1 year old the mother knew that something was different - that her daughter had some disorder. She thrived poorly during her first year of life. She was crying day and night. At one point the mother brought Lene to the doctor and put her on his desk and said, "Now you can keep her - because I cant manage any longer". After this the doctor wanted a psychiatric examination of the mother and accused her of being a poor mother. Again and again during Lenes childhood something was wrong, and the mother suffered almost constantly from a bad conscience because she got the impression that her husband and others in the family, as well as the doctor, thought it was her fault that her daughter did not thrive. When Lene was 9 years old the mother succeeded in getting the doctors to carry out a chromosome examination. As it turned out that Lene had Turners syndrome the mother felt much better, and the father realized that she had been right. The mother tells that she relaxed and felt much better when she realized that it was not all her fault that Lene had thrived poorly as a baby and had cried a lot and regurgitated. It was because she had Turners syndrome. This is a good example of how important it is to make the diagnosis of Turners syndrome at a very early stage, preferably already at birth, and to give the parents full information about Turners syndrome. A very introvert and silent 12-year old girl has become much more extrovert and has managed considerably better at school since she came into contact with other girls with Turners syndrome. All parents and young girls in the group are happy to have met the first grown-up women with Turners syndrome. The adult Turner women have been able to tell the Turner school girls something about getting through puberty, becoming grown-up, receiving hormone treatment and developing breasts and secondary sex characteristics, and about getting a boy friend etc. An 11-year old girl in the contact group, who previously didnt like going to school because she managed poorly and was teased, became much happier at school after joining the Turner contact group. She heard and saw that other girls in the contact group were diligent and managed well at school, and this stimulated her to greater efforts, which gave considerably better school results. An adult woman with Turners syndrome told about her experiences of participating in Turner contact groups. She is somewhat envious of the 10 to 12-year old girls who already have so much knowledge about Turners syndrome. She wished that she had had as much knowledge when she was their age. This would have helped her through many of the difficulties she, in spite of everything, has had because she did not know very much about why she was short of stature, and why she did not get menstruations or breast development at the same time as other girls her age. She would also have wanted very much to have had remedial teaching at school in arithmetic as she had great difficulties with this subject and never really learned enough. At a meeting in the Turner contact group in May 1982 in a Turner home, 5 happy Turner girls, all between 10 and 13 years old, were talking about what they wanted to become, i.e. lawyer, journalist, nurse and doctor. They were all happy, lively, intelligent and extrovert. At a meeting in the Turner contact group in February, 1983, a 36-year old woman with Turners syndrome was participating as a guest from another area of the country. She described how difficult it had been for her to grow up as a Turner girl because her parents had been very overprotective and had not been so interested in getting sufficient information from their doctor about Turners syndrome or in passing on the information to her. They had always tried to ignore her problems with decreased stature, lack of menstruations etc. She directed a positive and heartfelt appeal to the participating Turner parents not to be overprotective, dominating or infantilizing towards their Turner daughter, but on the contrary to stimulate their daughter with Turners syndrome to become as independent and self-confident as possible and to do what they could to be as open and informative as possible about all aspects of Turners syndrome. She praised the rhus initiative concerning the establishment of Turner contact groups and said that she would do whatever she could to organize a similar contact group in Copenhagen. She expressed her happiness to have had this experience for the first time and to be together with so many happy, extrovert and talkative Turner girls. In this connection she said that it was rather painful to think that such a childhood and youth also could have been hers, in spite of having Turners syndrome, if only she had experienced the same level of information provided in the Turner contact groups. She stressed that all her problems during her childhood and youth were in no way due to the fact that she had Turners syndrome, but, to a great extent, to the fact that doctors had

never given her parents sufficient information, and that her parents had not told her the little they knew about Turners syndrome. Fig. 14 shows Turner girls at a contact group meeting in rhus, 1982.

Establishment of further contact groups in Denmark and a national society of Turner contact groups
Between 1982 and 1984 a further 3 Turner contact groups were started in Denmark and today there is a Turner contact group network with 7 contact groups in various parts of the country. There are thus plenty of opportunities for becoming a member of a Turner contact group, irrespective of where one lives in Denmark. In 1984 a National Society of Turner Contact Groups was founded, and now the society has nearly 200 members.

Excerpt from the statutes of the National Society of Turner Contact Groups in Denmark
The goals of the society are to gather everybody with Turners syndrome, as well as relatives of these girls, in a national society in order to be able to spread knowledge about Turners syndrome, to provide support and information to parents of girls with Turners syndrome and adult women with Turners syndrome. Furthermore, the society will support the establishment of new Turner contact groups in Denmark and abroad. It is also the aim of the society to support Turner women with adoption, in vitro fertilization and egg donation, and to promote and support Turner research in order to find the best possible hormone treatment and treatment in general. The society is working for Nordic and international co-operation between Turner contact groups with the aim of establishing an international society of Turner contact groups. Information about the Danish National Society of Turner Contact Groups is available from Jane Nielsen, Byagervej 27B, 4682 Tureby, Denmark. Telephone: 045 53 68 33 52. and Bente Konradsen, Kantorvnget 6, 8240 Risskov, Denmark. Telephone: 045 86 21 11 76.

Why are Turner contact groups so valuable?

There is no doubt that participation in Turner contact groups is very valuable and of great help for Turner girls as well as for their parents. The groups have created more openness and acceptance of having Turners syndrome. Those who have a relatively wide knowledge about the syndrome can give this knowledge to those who have less knowledge, and those who have a good acceptance of having Turners syndrome can help others in the group to achieve such acceptance. Those who have a lot of resources can support and help those who have fewer resources, and valuable experiences can be exchanged about being short of stature, about conditions concerning menstruation, hormone treatment, sexual relations, marriage, adoption, egg donation etc. The parents of a young Turner girl recount their experiences: Our Turner baby: "As newly hatched parents of a Turner girl one can feel quite insecure in this new situation. Doctors give information and counselling. Sometimes its not totally complete because its theory for the doctors and it can sometimes be difficult to understand what they tell about. It has been a really great help for us, as parents, to get into contact with Turner women. It may be difficult to accept that your baby has a chromosome aberration when she looks quite normal. And what will she actually look like when she grows up? This is what you find out when you meet a group of nice, intelligent, friendly Turner girls and women in a contact group. One single evening together, and you look forward to the day when your own daughter becomes an adult woman.

Many other misconceptions will disappear in this way. The question for us was when we should tell our acquaintances and family that our baby had Turners syndrome. In the Turner contact group you can compare the doctors theories and these girls lives in reality. This has been a great help for us in the evaluation of how we can do the best for our child. In the beginning we had some difficulties in understanding the importance of contacting others with Turners syndrome because Christina had no serious disorder: "We dont have any problems". The help you get in a Turner contact group both for child and parents is, however, of undescribable value. Today, our Turner daughter has reached the age (7 1/2) where she is treated with daily injections of growth hormone. Prior to the commencement of this treatment we were afraid of the "unknown" and we thought to ourselves: "Isnt it terrible that our daughter has to stick a needle into herself every evening." However, we were provided with comprehensive information in advance, and when our daughter was due to start the treatment she had quite adjusted to the idea, in fact she was actually looking forward to it. It was important for our daughter that we, as parents, turned up at the school to explain why she was smaller of stature than her schoolfriends. Our daughter proudly showed off her growth hormone pen to all her friends. This provided a new frame of reference for our daughter and the other children. A year after the start of treatment our daughter is still stoically taking her growth hormone injections, and, according to the school doctor, she has grown by more centimeters than is normal for a 7-year-old, so thats really nice. We hope, as parents, to encourage other parents of Turner girls to join Turner contact groups. It may be just for one single meeting or a continuous contact as one wishes." The Turner contact group in Copenhagen held a series of meetings in 1990 on the following topics: selfacceptance; job applications, choice of career and education; psychological development; living together; information; finding your way in "the system"; children, adoption and pregnancy, contact groups and The Danish National Society of Turner Contact Groups. It is our impression that these meetings and discussions have been extremely valuable and that similar meetings can be recommended to other Turner contact groups in Denmark and elsewhere.

Turner Youth group

In the context of Turner contact groups, it should also be mentioned that a group of Turner girls from all over Denmark have joined together to form a Turner Youth Group, under the auspices of the National Society. The aim of the Youth Group is to gather all Turner girls and women between the ages of 13 and 24 years in order to provide support and information for younger Turner girls, to deal with topics of particular interest for this age group, to spread knowledge and information about Turners syndrome and to seek contact with other youth groups abroad. Majbritt Mrk from the Youth Group writes about the youth group: "We are a number of girls who have started a Turner Youth Group. We feel that this was lacking for those in our age group, i.e. 13-24 years. We started with a weekend trip in August 1990, which was a huge success. We were 25 girls on the weekend, we sang, had a good time and it was really a great weekend. We have representatives all over Denmark." with best wishes Majbritt Mrk Majbritt Mrk, Grumstolsvej 25, 8270 Hjbjerg, Denmark. Fig. 15. shows cheerful members of the Turner Youth Group on a weekend trip.

Letters from Turner contact groups

In the Danish edition of this book a series of letters from the various contact groups appear. These letters are sent to Turner parents and Turner women, offering them the opportunity to come to a Turner contact group meeting. The letters include the names and addresses of 2 or 3 Turner women, and, in some cases, of a Turner

mother or father. These letters have been omitted from this English edition with the exception of one example from the Copenhagen Turner Contact group.

Turner Contact group in Copenhagen

Turner contact groups! Why?! Where?! As a Turner girl/woman you have the opportunity to meet others in the same situation. Here in Copenhagen we are a group of girls and women who have got together. We have talked with each other, without any sense of obligation, about lots of different things, and we would like to invite you to join us. Its a general experience that those who, in some way or another, are a little different from others, can learn to live better with this difference when they can talk together and exchange experiences with others who are different in the same way. We hold a meeting about once a month and these can take many different forms. They may be about one particular subject, we might invite an expert in some related field, a doctor, for example, or else we might just meet to chat with each other and have a nice time. The Turner Contact Group in Copenhagen covers all of Zealand and Lolland-Falster and we have 60 members at present. Experiences with parents of newly-born Turner girls and newly- diagnosed Turner girls have shown that they can get a great deal out of meeting the group. We know that it can be difficult to make the decision to come along, especially if you feel shy or a bit out of place. But irrespective of how you feel, you can always just come along and then youll see who we are and get to know us. If you would like to talk to someone from the group, then just contact us at one of the telephone numbers listed below. Turner women: Dorthe Brodersen, Kildestrdet 2, 2740 Skovlunde. Tel: 045 42 84 28 38. Jane Nielsen, Byagervej 27B, 4682 Tureby. Tel: 045 53 68 33 52. Turner mother: Charlotte Orvard, Ordruphjvej 5, 2920 Charlottenlund. Tel: 045 31 63 68 70.

Members of Turner contact groups in Denmark recount their experiences

The background for the following accounts is our wish to spread knowledge and information about Turners syndrome and to tell about our experiences to other girls with Turners syndrome. These experiences are as different as we are different. We believe, however, that others with Turners syndrome may benefit from reading about our experiences. It is our hope that Turner girls and women who have, as yet, no contact with others in the same situation will come out into the open and, through frankness and openness, find support and encouragement in common with others "of the same size". Also parents who have a Turner daughters are welcome to join us, either to visit us with questions or to participate in the group activities on a more regular basis. The broadness of the group constellation makes it possible to have a personal and confidential conversation with a member of the group, who, in terms of age and social experience, can be a good consultant. This also implies that information can be provided in another way and with another background than that given by a doctor, and that as much time as is necessary can be taken to give this information and to keep in touch.

There s hardly any difference

I am a 9-year old Turner girl, and I dont think there is any difference between Turner girls and other girls nowadays. I have hardly been teased more at school than other girls. I manage well at school, and I have a good teacher. Sille

Fig. 15. Turner Youth Group on a weekend trip, 1990.

As Silles mother I can only agree. Sille was 5 when it was found out that she had Turners syndrome. Nobody, and this means doctors, health nurses, nursery school teachers, friends or parents, ever thought that there was anything special about Sille, except that right from birth she has been an unusually happy and harmonious child who hardly ever cried. We were in the very fortunate situation to have a family doctor who immediately referred us to Johannes Nielsen. It is most probably something of a shock for most parents to be informed that their child has some kind of "deviation", but I dont think that the message can be given in any better way than the way it was given to us. From our first conversation with Johannes we got clear and understandable answers to all our questions, and so much information about Turners syndrome that we very quickly accepted the situation. Then we began to "prepare" Sille with remarks about her stature, and when we thought that she was mature enough we told her and her elder sister about Turners syndrome. Sille has now completely accepted the idea that she is not going to be as tall as her friends, that she needs tablets to develop breasts etc. That she most probably will never give birth to a child has so far not been any great problem, as we always talk about how you can either give birth to your child or adopt a child. Her elder sisters reaction to the information that Sille wont grow very tall was, "Then its lucky for her that shes so strong". As I hope it will be evident from what has been said, everything has been rather painless so far. I dont know how Sille will develop in the coming years but why take any problems in advance. At the moment she lives a

happy life, has many friends and interests, is creative and full of energy, is hardly ever ill, manages fine at school and youth center, is very independent and has a remarkably harmonious temperament. This must be the best ballast for her future.

Hurrah - I m a Turner
Im a 15 year-old Turner girl. At birth I had puffiness of the back of my hands and feet. The doctors said that this would soon disappear, but it didnt disappear completely till I was treated by a physiotherapist when I was 13. As an infant I went to treatment at the Orthopaedic Hospital for my swollen hands and feet, and they couldnt tell us why this happened, not until the age of 2-3 when I came to Johannes Nielsen at the Cytogenetic Laboratory in Risskov where my parents were given the information that I had Turners syndrome. I had a completely normal childhood. Nobody paid special attention to me because of my "illness". I dont consider Turners syndrome to be an illness, nor do I think that special attention should be paid to Turner girls. My parents told my family and friends about Turners syndrome. They responded very positively to this information, and they have always treated me according to age and not to stature. When I was 6 years old I started in the nursery class. I didnt like the first two years at school, but after changing to another school I adjusted well and was happy. I have had some problems with mathematics and writing. Today Im in the 9th form, and Im doing fine, also in mathematics and writing. Like most Turner girls I love languages. I would like to become a correspondent at some point in the future. In my class at school I have given lectures about Turners syndrome, and Im sure that this has contributed a lot to the fact that my school friends accept me as I am. When I was about 12 I was treated with some growth promoting hormones (Oxandrolone). During the 2 years of treatment I came to check-ups at the Cytogenetic Laboratory every third month. Today my parents are divorced, and my mother and I live alone together with my younger brother who is 12. All 3 of us have an open and good relationship with each other. I believe that more openness and information concerning Turners syndrome, both for the girls themselves, and for the parents, friends and families, would help the girls with Turners syndrome who have problems. That is why I think it is so good that we now have Turner contact groups around the country. I hope that the contact groups can contribute to the decrease in frequency of induced abortion of foetuses with Turners syndrome by informing and telling about us. Im absolutely convinced that Turners syndrome should not be considered as grounds for an induced abortion in connection with prenatal chromosome examination. We may have some small aberrations, but they can all be treated, and if we are brought up in an open and natural way and given information, we are as good as any other girls. Fig. 9 (page 35) shows Gitte, aged 12, with her friends (1982).

Some of my experiences as a Turner girl

I am 21 years old. When I was born it was quickly found out that there was something wrong. My feet were swollen, and there were other minor disorders. I was moved from the hospital where I was born to a paediatric hospital, where they knew more about my chromosome aberration. They kept me for a couple of days, and after this I came to regular check-ups. All this is something I have been told by my parents. The first thing I remember myself is some of these check-ups at the hospital. When I was 6 years old I was admitted to this hospital for a further examination. I was measured, weighed and they took blood samples. The purpose of my admission was for doing research concerning my chromosome aberration. I dont remember how long I was admitted for, but I remember that I was crying a lot when I was told that I was going to be admitted. I had realized what was going to happen. Already from this time I hated this hospital and felt it was something terrible. And what happened didnt make it any better. I was admitted and cried a lot when my mother left. Nothing really happened in the beginning, but the days felt like long, heavy years.

After the discharge from hospital I continued to come to regular check-ups at the hospital until I was 15 or 16. At that time I started talking about the possibility of hormone treatment, which I needed if I was to have normal development of secondary sex characteristics. I started on estrogen treatment as part of a research project. After a year I was sent to a gynaecologist and the estrogen treatment was changed to cyclic estrogen treatment with a preparation of estrogen called Trisekvens. Since then I have had regular menstruations. Now I have told about some of the physical conditions of having Turners syndrome, and I also want to talk about some of the psychological problems. Actually there were only a few problems before puberty. But I was completely shattered when I heard that I couldnt have children. I have always loved children and have been an eager baby-sitter. As a teenager I had a hard time being a Turner girl. Gym lessons were hell for me at the time of puberty. I felt that everybody looked at me because I was different. I hadnt started developing breasts and female characteristics like the others. This led to me being given permission not to participate in gymnastics. But the problem was not solved. My class mates demanded to know why I didnt have to participate in gymnastics. Furthermore, it was not only the lessons in gymnastics; it was also the problems that turned up when we went together on weekend tours. There were many other examples, for instance, when I had a girl friend visiting me and staying overnight. The next problem in puberty arose when I started going out with boys. I had to tell them why I wasnt developing like other girls my age. Another example of some unpleasant situations was when a girl friend asked if she could borrow a sanitary towel, and I had to explain that I had no menstruations yet. Even today it can bother me to participate in gymnastics, but apart from that there are hardly any problems left. Now I am used to explaining the situation, and it doesnt bother me. However, it is still a problem for me that I know that I cant have children, and I have to tell myself that children are not the most important thing in the world, and there is still the possibility of adoption.

I was 15 years old when "sentence" was passed

I was 15 when "sentence" was passed! Yes, thats how I felt when a blood sample showed that I was a Turner girl. I felt as if someone had thrown a bucket of cold water in my face, this piece of information paralysed me completely. A million thoughts flashed through my mind. Why me? Im not ill! All right, I might be small, and Turner girls are small - but what is this Turners syndrome really? - Now Im not like the others! Then I started crying, and even though my mother did her best to comfort me, I was totally inconsolable. This information was really tough to digest at the age of 15. Youre so sensitive at that age, and you feel like its the end of the world if you deviate just a little bit from the norm. Now I know that life as a Turner girl is not just all problems. But you have to keep an eye on the problems which, after all, do turn up, so you can do something about them. As a teenage Turner girl you probably have to struggle a bit harder than other teenagers, in order to grow up and mature. Many parents treat their Turner daughters according to their height instead of their age, and this can lead to Turner girls having difficulties in "being allowed" to do the same things as their peers. Thats why I want to say to you Turner parents: Give your Turner daughters a shove forward! - Help them to grow up. Now there are sure to be lots of Turner girls who know how to "exploit" the situation, so you end up doing things for them. Ive tried myself lots of times with lines like: "I cant reach" or "I cant do that". But just as often Ive been given the replies: "Take a chair, then" or "Practice makes perfect." Today, at the age of 21, I know that my life will be just as good as others. Im attending a further education college in rhus. Ive always been active in sports and have always had all the friends I could wish for. Im an extremely happy girl and I have a tremendous zest for life.

Everything that I could wish for

Im a girl with Turners syndrome aged 22 years. A lot of people think its a handicap to lack a few centimeters, but its never been a problem for me. The reason is most probably that we, my parents that is, have known about it since I was born. This has given them the possibility to help and support me when I was sad about my short

stature, which I have been now and then. But the most important thing is that they have never overprotected me or infantilized me, but taught me how to accept myself as I am. If others cant accept me then theyre not worth having as friends, but I have had friends all my life. Already at school I made a lot of friends, and we visited one another. Okay - I was a little shorter than they were, but thats just the way things were. Later, when puberty began for the other girls, I began to wonder why I didnt get breasts and menstruations, but then I talked with my mother, and she told me why. On the other hand I was quite happy not to have menstruations, because this might have led to conditions like those my sister experienced. She was irritable and had pains in her lower back when she had her menstruations. After leaving preliminary school I continued in the gymnasium in the language stream and got a decent exam. Here, too, I made a lot of friends, and I felt that I was accepted as I was. There was no discrimination. With regard to the other sex I can tell that today I live together with my boyfriend, and we have been living together for two and a half years. He is fully aware of my "disease", but it took some time before I told him. Also here Ive been lucky. When I told him that we could never have children, he said that it didnt matter. He let me know that he loved children and that if we couldnt have children ourselves we would try to have a child in some other way. At the moment we just want to enjoy life and each other. All through my life Ive been at the Paediatric Hospital a couple of times a year, and when I was 18 I started on estrogen hormones. This has led to the fact that I now look like a real woman, but Im only 150 cm tall. When I started estrogen treatment I was only 140 cm. The only side effect was that I gained weight from 30 to 42 kg. Today I weigh 40 kg. But what does all this mean when you otherwise have everything you could wish? - I have parents I can always come to talk with, a sister I love to talk with and a nice boy-friend, as well as a lot of friends who say that Im a wonderful little girl/women. The most important thing is that one gets information as early as possible and learns to accept oneself as a Turner woman. It need not be any great problem to be short of stature, "Better to be small and alert than big and lazy ...".

I might be small, but the others have to accept it

Im a 23-year old Turner girl, and I always lived completely naturally with my "handicap". I dont actually think that one should call it a handicap, because everything shows that Turner girls manage fine and are able to live a normal life. Right from I was born my parents knew that I would be growth retarded, but they didnt know that I had Turners syndrome until I was 14. I think this was very wrong of the doctors who knew and didnt tell. Right from birth Ive been to regular medical check-ups, and nothing has been hidden from me concerning my "disease". I got the information about it, but I think the information my parents and I were given could have been much better. It has been of such vital importance that we have always been aware of the problem. My parents, siblings, and family in general have always accepted 100% that I would never become very tall. My greatest ballast is definitely that I was brought up to accept myself as I am. Being a Turner girl has never been any great problem for me. My rule of life has always been, "I might be short, but the others have to accept it". Or the one that everybody most probably knows, "Better to be small and alert...". After all, we cant all go around looking like Miss World. Who says that one should be tall, slim and beautiful in order to be in? This, however, is what we are told every day through the media. But if you look around there are very few women who can live up to these norms. Should I live up to these norms? In my opinion the answer is NO! It would be boring if we were all stereotypes as shown in the commercials. Every human being should have her own characteristics and her own personality. You can always find faults and deficiencies, if thats what youre looking for in a person. My time at school was quite normal. I was always happy to attend school, and I was average. After preliminary school I decided to attend the gymnasium (where we take the last examinations before leaving school for university or other forms of further education), as I wanted to get a good theoretical training rather than a job which demands physical strength. Right after finishing gymnasium with a mathematical/scientific exam, I started training as a clinical/ chemical laboratory assistant which I have now successfully completed.

Of course, not everything has always been rosy. There have been times with teasing and problems. However, I dont believe that I have been teased much more than others. This may have something to do with my upbringing. I was never overprotected, I had to accept the adversity which life gives. Of course it cant be avoided that people often make remarks about your stature, your age etc., and often in spontaneous wonder, without meaning anything cruel with their questions. I take this as a natural reaction with nothing degrading in it. It may also have its advantages to part from the crowd. I have a feeling that I often get a closer relationship with the patients than is normal for a laboratory assistant. It gives many positive experiences. I confronted my greatest adversity over the last few years after getting a job. I have had some problems with my work as a laboratory assistant because there are great demands for productivity, demands that I may have had some difficulties in living up to because of my short stature and lack of physical strength. Actually, I dont think its so easy to get on at a workplace where 90% of the staff are women. I dont think that women are very tolerant. They judge very much from hair style, clothes etc. Maybe laboratory assistants are a bit special. Everybody wants to be a little perfectionist with control and order in all aspects of life. I cant always live up to this. For many Turner girls establishing a natural relationship to a man can be a problem. I have never had great problems in this respect due to my acceptance of myself as someone with Turners syndrome. It has been of great importance for me that I met my present fianc, with whom I have lived for the past 4 years, when I was 15. He has always been very understanding and accepted me 100%. This is of course an enormous help. There is no doubt that our greatest problem is that we most probably cant have children. Even though we both like children, we agree that this is not a great tragedy, and we hope to be able to adopt a child. Being a Turner girl/woman doesnt necessarily have to be a great problem. The problems arise out of lack of acceptance and understanding from other people. This doesnt mean that we need any overprotection. We have to mature and manage the adversity life brings and to appreciate human values more than physical appearance. In order to succeed in this, information and openness are of great importance.

A woman in every sense of the word

I am 28 years old, and I have Turners syndrome. In 1973 it was discovered that I had no ovaries, and I was given hormone treatment. In 1979, when I was 23 years old, I heard for the first time about Turners syndrome and found out that something was wrong with me. My interest was further stimulated when 5 years later I was asked to participate in a transcultural study and was given the opportunity to participate in a Turner contact group together with other Turner women. I grew up in a nuclear family, and I have 2 siblings, an elder brother and a younger sister. I spent most of the first year of my life in hospital (the doctors thought that I had milk allergy). While I was hospitalized my younger sister was born. All through my childhood I was described as introvert. I was overweight since starting at school, and I was more bothered by this than by the fact that Im not so tall. Today, at the age of 28 Im 153 cm tall. My parents and the doctors, who treated me as a child, were never aware that I had a chromosome aberration. I havent been very overprotected or treated specially. Quite the contrary, I often feel that I was thrown in at the deep end and had to manage for myself. I got reasonable marks at school, but I had difficulties in making friends among girls my age. Due to the fact that Im taller than the average Turner girl it happens that others dont understand why I have problems in connection with Turners syndrome. In 1973 I was examined very thoroughly and admitted to hospital in order to have an examination made of my ovaries and my uterus. I have the impression that nobody gave my parents any information about why it was necessary to operate in order to be able to carry out the examination (they were only asked to give their approval for the operation), and I myself got very scanty information (I had to ask for the information I got). It was really difficult to throw the shyness overboard and ask straight out. I had the feeling that my questions were ridiculous. Since I heard about Turners syndrome for the first time I have changed a lot. My identity as a woman has become fully developed, and I have become more independent. It was also very important for me to leave home and get my own apartment. I was employed as a public servant in 1974, and thanks to very good superiors, who

dont discriminate, I was given the opportunity to do very responsible work. There have been times when I have been through periods of crisis. "Who am I? What shall I do? Am I good enough?" I have had problems with choice of education and job. I have suffered from lack of self confidence, a feeling of being different and of having a chromosome aberration, and in periods I have suffered from anxiety for the consequences this would have in my life. Probably everybody has to confront such problems, but they appear later for a woman with Turners syndrome, and nobody told me that, and nobody listened to me and understood me. I thought that I was completely wrong, and I was afraid of becoming mentally ill. In closing, I would like to stress that now I am happy to be the person I am, uniquely created, of equal value with other human beings. I am privileged in a number of ways, and I am a woman. The latter should be written in capital letters: "WOMAN", because this is what its all about. Femininity and a certain portion of humour may help women with Turners syndrome through many difficulties. In reality having Turners syndrome doesnt create so many problems, but it may do so if others make it a problem, and if unnecessary anxiety and nervousness is created in the parents of Turner girls by the doctors. If Turner girls and women stand together we can do a lot to prevent this.

Information, information and more information

I am 38 years old, but Im only 150 cm tall because I never went through a normal puberty development. Im what the doctors call a Turner girl. At the same time as the physical development stops, at a time when girls of ones own age are putting in a tremendous final spurt, psychological maturity slows or stops, if the environment is not fully conscious of what is wrong with the Turner girl. I grew up in an environment where everybody did everything for me concerning practical things, but nobody realized or accepted that my physical development was retarded. My parents never asked the doctors or looked for answers in the literature about why I didnt grow and develop like other girls. With totally misplaced goodness they "pushed" me down into the role of a child, which has retarded my mental maturity to an alarming degree so that today I have to accept that Im not as emotionally mature as I ought to be, taking my age and the fact that I have a degree in law into consideration. Mental immaturity has also manifested itself in relation to my friends, the number of whom has been reduced, because friends of my own age couldnt be bothered with listening to somebody who functioned on the borderline of the psycho-infantile (mentally immature). When one is so immature, the relationship to a man doesnt mean anything, and you become a lonely and unhappy human being who has difficulties in managing if you dont run into "a mental maturity process". The doctors take care of the medical treatment. Much can be done, and is done, so that Turner girls get body proportions like "normal" women, even if it is to a somewhat smaller degree. It is, however, extremely important that the Turner girls surroundings at day institutions, at home, or at school, know why the Turner girl is not as tall as other girls her age. It is also important that the other children at school are told why their classmate is short of stature so that it becomes possible for the Turner girl to participate in the group life, also outside of school. I have never experienced the happiness and stimulation associated with being in a class together with others, on the contrary I was ridiculed because I was short and also rather fat. I spent many school breaks in the toilet to avoid being teased. When we were at confirmation age (13-14 years), I was never invited to parties with the others, but I have heard that everybody else invited each other. On Saturday nights I could cry myself to sleep, because then I knew that now the others were having a good time. There are thus many examples of what contributes to create an introvert and insecure human being. In a male dominated society there will often be an indulgent smile from a man when one, besides being a woman, is also short. If one ends up as a psycho-infantile individual one might be ridiculed. The Turner girl thus ends up in a vicious circle which is difficult to break. In my case I "ran into a" mental maturity process during my time of studying law at the age of 32-37. This was a process which hurt mentally, but the result was a happy, extrovert and self-conscious woman with the word

woman doubly underlined, who today has a really good life. I have many friends, and at the age of 37 Im able to make relations with the opposite sex. For the first time in my life I have experienced what it means to be a woman and to have a really good time together with a man. The conclusion of this is simply that you cannot stress enough for parents, doctors and everyone who is responsible for the mental and physical development of children, that even if, as a Turner girl, you lack sex chromosome material with the genes which are responsible for normal stature and for development of normally functioning ovaries, there is nothing to prevent us from functioning normally as grown-up Turner women. The main rule is, however, that the stork does not visit marriages where the wife has Turners syndrome. The prerequisite for a happy life for a Turner woman with the possibility of adopting is that, in families where a Turner girl is born, information should be given again and again, so that the family realizes what is wrong with the little girl. I myself am in the situation that, according to Danish law, I am too old to adopt a child. I have been too immature mentally to "run" my life. The fact that I became mentally mature far too late in life is due to lack of information and psychological support from my parents and from doctors. Nobody told me what was wrong with my body or why I should have hormone treatment. I had to find all this out for myself. Its impossible for an immature Turner girl to manage when shes treated in this way and when she lacks the relevant information. Therefore - once again: information!

The Turner contact groups conclude

It is not only the parents, who should be informed, but also the Turner girl. She is not mentally retarded. When a Turner girl is old enough to receive hormone treatment she should know that she has no reason to doubt her femininity and female identity. It should be underlined that we are not a group of retarded psychopaths, but a group of small but happy people with normal intelligence. We may become grown-up somewhat later than normal, but it comes, and with a good, well-informed and stimulating environment and hormone treatment there should not be any remarkable delay. Mental maturity is a very important factor if we are to have any hope, as Turner girls/women, to succeed with an application for adoption. If we function as psycho-infantile, then something which is difficult enough beforehand is doomed to failure.

Poems by Marie-Thrse Salliou

Two poems and two illustrations from a collection of poems: "Songs in the Night", written by Marie-Thrse Salliou and published by Gallo Publishers, rhus, Denmark. In the preface the editor writes: This small, touching and extremely well-written and talented collection of poems was originally written in French by Marie-Thrse Salliou, who has Turners syndrome, a syndrome caused by the lack of X chromosome material and connected with short stature and usually also with infertility. Marie-Thrse Salliou was not told about the fact that she had Turners syndrome until rather late in life, that is at the age of 21. The present poems deal with her thoughts and feelings before she was told, at the time she was told, and afterwards. At Gallo, we have considered these poems to be so talented that we have translated them into Danish, English, German, Spanish and Italian, and together with Marie-Thrse Salliou we want to dedicate these poems to girls with Turners syndrome around the world. Johannes Nielsen Gallo Publishers is a non-profit making publishing society whose main purpose is to support unknown and little known authors in publishing their works. Many of these authors write because it is an essential part of their life, and in many cases a means of fighting insecurity, anxiety and loneliness. The members of the publishing group are unpaid. We do not function as censors, but in close co-operation with the authors. We are active readers in a work process with the manuscripts we receive from the authors.

The economic background of Gallo Publishers is a support group, in which the individual pays 150 Danish kroner per year, while institutions pay 500 Danish kroner per year. This income is augmented with support from various foundations.

SONGS IN THE NIGHT Songs in the night...perhaps ...but the night is also singing while searching for its light Those who have passed through the same night will perhaps recognize each other with the recognition of their night I want to let them know that to them I dedicate these songs. So that their night too will guide them towards the light However long the night may be However black its soot may be It will take us to the morning

THE DAISY A very small flower, A simple daisy Hidden in the grass beside the road So that nobody notices it And which the passer-by tramples with his foot A common flower Without perfume Too small To dream of being used as a bouquet. If it had the beauty of the rose, It would also have the thorns of the rose If it had the perfume of the rose. The rose is no more than the splendour of the morn Which seduces and then brings pain. The child does not pick the rose, but picks the daisy. The daisy is the childrens flower And the daisy should not be placed Alongside the rose. Albeit the same sun it is Which unfurls them both And all flowers are lovely. This collection of poems is illustrated by a Danish artist, Tove Hasager, and can be bought for $9 US from the Cytogenetic Laboratory, Skovagervej 2, DK-8240 Risskov, Denmark.

A word from Marie Thrse Salliou

Marie-Thrse Salliou has added these comments to her poems and to this booklet: "When I heard about Turners syndrome for the first time, at the age of 18, it seemed to me that at last I was getting the key to the mystery, an answer to some questions I had been asking myself for a long time. It seemed to me that I was at last able to understand why, in spite of medicines, I had not grown up like my sisters, and why I still had to take medicines to become a girl like the others. It seemed to me that at last I was able to understand. And I was afraid. I was afraid of what I could see I would have to accept. What did the future hold for me... A time for tears, a time for questions to scramble in my mind. A time for writing, too. I wrote: "And perhaps my body is like a wall, in front of my love..." Too many questions were scrambling around in my mind, I needed to write them down. So I wrote the poem, "Songs in the night." Later on, I got some answers. I had been wrong. I didnt have to be so afraid. My body was not a wall in front of my love. I wasnt able to become a mother, but I could still adopt children, and above all, despite Turners syndrome, I was fully a woman. You made me discover that. It took us a long time, it wasnt easy...but now we laugh at it. At last, in spite of some remaining scars, I regained my self-confidence. Information, more and more information. Yes, of course: information and dialogue, and its even better if the Turner contact groups, mentioned in this booklet, help the Turner girls to self-acceptance. To speak, to break our silence when we are confined in it. To take away misunderstandings and hastily arrivedat opinions... Information and dialogue - yes indeed. I have only to add: dont label me: Dont ever label anyone. The label hides the person. While you look at the label, reading it...you cant see who the person is behind this label. So, dont label me! Yes, of course, I am a little woman. I have Turners syndrome, but dont pay too much attention to the label, dont look too long at it. Beyond this label, beyond my appearance, try to discover who I am. Perhaps Im not so different from you as you think. Remember: Dont label me! Dont label anyone!"

Literature about Turner s syndrome

Cornet, D., S. Alvarez, J.M. Antoine, Ch. Tibi, J. Mandelbaum, M. Plachot and J. Salat-Baroux.: Pregnancies following ovum donation in gonadal dysgenesis. Human Reproduction vol. 5 no. 3, pp. 291-293, 1990. Ejlertsen, .(1991): Cecilia and her friends. A Turner Girl in Denmark. Published by Novo Nordisk A/S, Niels Steensensvej 1,DK2820 Gentofte. Lindsten, J.: The nature and origin of X chromosome aberrations in Turners syndrome. Thesis, Karolinska Hospital, 1963. Almquist & Wiksell, Stockholm. Nielsen, J., H. Nyborg & G. Dahl (1977): Turners syndrome. A psychiatric-psychological study of 45 women with Turners syndrome, compared with their sisters and women with normal karyotypes, growth retarda- tion and primary amenorrhoea. Acta Jutlandica XLV, Medicine Series 21, rhus. Nielsen, J. & I. Sillesen (1981): Turners syndrome in 115 Danish girls born between 1955 and 1966. Acta Jutlandica LIV, Medicine Series 22, rhus. Nielsen, J. & M. Stradiot: Transcultural study of Turners syndrome. Clinical Genetics 1987: 32: 260-270. Nielsen, J., T. Larsen, B. Konradsen, . Ejlertsen & R.W.Naeraa,(eds): Ist International Turner Contact Group Meeting, rhus, Denmark, September 23-26, 1988 (Proceedings). Nielsen, J. (1988): Klinefelters syndrome. An orientation. Published by the National Society of Turner Contact Groups in Denmark. 20 p.

Nielsen, J. (1989): What More Can Be Done for Girls and Women with Turners Syndrome and Their Parents? Acta Pdiatrica Scandinavica [suppl] 356: 93-100. Nielsen, J. (1990): XYY-males. An orientation. Published by the Turner Center, Risskov, Denmark. 18 p. Nielsen, J. (1990): Triple-X females. An orientation. Published by the Turner Center, Risskov, Denmark. 20 p. Nielsen, J., B. Konradsen & T. Larsen (1990): Turner News, vol 2, No 2. Turner Center, rhus. Nilsson K.O., and the Swedish Paediatric Study Group for GrowthHormone Treatment (1989): "The Swedish Somatonorm Turner Trial: Two-year results". Acta Paediatrica Scandinavica 356: 160. Naeraa, R.W., J. Nielsen & K.W. Kastrup (1990): Estrogen treatment of Teen-age Turner girls. Guidelines.Cytogenetic Laboratory, Skovagervej 2, 8240 Risskov. Naeraa, R.W. & J. Nielsen (1990): Estrogen treatment of adult Turner women. Guidelines. Cytogenetic Laboratory, Skovagervej 2, 8240 Risskov. Naeraa, R.W. & J. Nielsen (1990): Standards for Growth and Final Height in Turners Syndrome. Acta Pdiatr Scand 79: 182-190. Naeraa, R.W., M. Eiken, E.G. Legarth & J. Nielsen (1990): Prediction of Final Height in Turners Syndrome - A Comparative Study. Acta Pdiatr Scand 79: 776-783. Rosenfeld R.G., R.L. Hintz, A.J. Johanson, B. Sherman, J.A. Brasel, S. Burstein, S. Chernausek, P. Compton, J. Frane, R.W. Gotlin, J. Kuntze, B.M. Lippe, P.C. Mahoney, W.V. Moore, M.I. New, P. Saenger, V. Sybert (1988): "Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome. The Journal of Pediatrics 113: pp. 393-400. Rosenfeld R.G. & M.M. Grumbach, (1990): Turner Syndrome. Marcel Dekker, New York & Basel. 521 p. Rosenfeld R.G.: Non-Conventional Growth Hormone Therapy in Turner Syndrome: The United States Experience. Horm Res 1990; 33; 137-143. Salliou, M. (1986): Songs in the night. Gallo Publishers, rhus. Salliou, M. (1988): You forgot to grow. Gallo Publishers, rhus. Sculerati N., Ledesma M.J., Finegold D.N., Stool S.E.: Otitis media and hearing loss in Turners syndrome. Arch Otolaryngol Head Neck Surg 1990; 116: 704-707. Turner Contact Group on North Jutland (1989): I am a Turner. Turner Center, rhus.