Adrenogenital Syndrome: The Anatomy of the

Anomaly and Its Repair.

Some New Concepts

By W. HARDY HENDRENANDJOHN D. CRAWFORD

EMALE PSEUDOHERMAPHRODISM with congenital adrenal cortical

F hyperplasia is the most common type of intersex problem seen in children.
The degree of masculinization of the external genitalia is thought to be related
to the time and amount of androgen production in the fetus.1-3 In females with
this disorder the internal structures are always normal (uterus, tubes, ovaries,
and upper vagina), but there can be a variable degree of virilization externally.
At one end of the spectrum there is clitoral enlargement with a normal
vaginal introitus; at the other, an entirely male-looking phallus with a urethra
extending to its tip. Most cases fall between these extremes, having clitoral
hypertrophy, an opening at the base of the clitoris which represents a uro-
genital sinus, with fusion of the labia minora so that a vaginal orifice is not
visible ( Fig. 1) .
This report will describe an experience with 7 cases during the past 3 years
in which there was virilization of not only the external genitalia but also the
anatomy of the lower urinary tract (Fig. 2). In each the vagina entered the
urethra at the verumontanum between the bladder neck and the external
urethral sphincter. Clinical details of 4 of these cases have been reported
recently. Cases l-6 were seen and operated on our own service; case 7 was
operated at the Cedars of Lebanon Hospital, Los Angeles, California, and is
included by permission of Dr. Stephen L. Gans. There have been only 11
cases previously reporteds-1 in which the vagina entered the urethra proximal
to the external sphincter; 4 of these were found only at postmortem exam-
ination. Our experience would lead us to believe that this anatomic configu-
ration may be more common than supposed and that all of these children
should have careful study by urethrography and urethroscopy, for we believe
that the type of surgical repair should depend on the anatomy. No surgical
repair has been described in any of the previously reported cases. All of our
infants have been operated upon and this report describes the procedure
which has evolved from this experience.

From The Childrens Service and the General Surgicul Service of the Massachusetts
General Hospital and the Department of Surgery, Harvard Medical School, Boston Mas_
sachusetts.
W. HARDY HENDREN, M.D.: Clinical Associate in Surgery, Harvard hdedical School;
Surgical Chairman, Childrens Service, and Associate Visiting Surgeon, Massachus&ts Gen_
ed Hospital. JOHN D. CRAWFORD, M.D.: Associate Professor of Pediatrics, Harvard hledi-
cal School; Chief, Endocrine-Metabolic Unit, Childrens Service, Massachusetts General
Hospital.
This investigation was supported in part by a grant from the National Institute of Child
Health and Human Development, 5-Tl-HD-00033.

JOURNAL OF PEDIATRICSURGERY,VOL. 4, No. 1 (FEBRUARY) 1969 49

50 HENDREN AND CRAWFORD

Fig. l.-Female infants with adrenogenital syndrome showing varying degrees

of masculinization of external genitalia. A, Entirely male appearing phallus with
urethra at its tip. B, Apparent hypospadias with urethral opening at midshaft of
phallus. Probe in urethra distal to external urethral sphincter. C. Clitoral hyper-
trophy but normal vaginal introitus (not in this series).

Fig. .%-Variable anatomy of the lower urinary tract in females with adrenogenital
syndrome. A, Urogenital sinus into which open separately the vagina and the
urethra. Access to the vagina is a simple procedure as shown in Figure 4. B, Male
configuration of the lower urinary tract with entrance of the vagina into the proxi-
malt urethra. In the last 4 cases prostatic tissue has been proven histologically to be
present at the junction of the vagina with the urethra. A simple cutback vagino-
plasty in these cases would divide the external sphincter. The high position of the
vagina also makes it less suited for a simple marsupialization procedure. An opera-
tion as shown in Figure 5 is preferred.

CASE MATERIAL

All 7 children were females with salt-losing adrenal cortical hyperplasia.

Because of masculinization of the external genitalia, each had been thought
at birth to be male and the diagnosis came to light in all instances when an
ADRENOGENITAL SYNDROME

Fig. 3.-A, Urethrogram showing male type of urethra with vagina filling proximal
to external urethral sphincter. B, Vaginogram using urethral catheter inserted into
verumontanum through panendoscope. The uterine cavity is also demonstrated; a
smalI amount of dye passed into the peritoneal cavity. The vagina had not filled
by conventional urethrography.

adrenal crisis occurred from 1 to 3 weeks of age. Three had an entirely nor-
mal appearing male phallus with the urethra extending to the tip; 2 of these
had undergone circumcision. The remaining 4 had what appeared to be severe
hypospadias with the urethral opening at the corona in 3 and the midshaft in
one. All had transformation of the labia majora to structures resembling
empty scrotal sacs.

X-Any Exanzindon
If a urethral catheter is placed into the urogenital sinus opening or urethra
in these infants there may be failure to demonstrate the pertinent anatomy.
Urethrograms were obtained in all by injecting dye under fluoroscopic con-
trol with a blunt-tip syringe approximated to the meatus. In 4 patients the
vagina filled as a diverticulum off of the proximal urethra (Fig. 3A) but in 3
it did not; in these its presence was proven at cystoscopy by injection of dye
through a urethral catheter threaded into the vaginal aperture (Fig. 3B).

Cystopanendoscopy
Cystopanendoscopy was performed with appropriately miniature equipment.
In all cases there was a male-type urethra, with a well-defined external
sphincter, a verumontanum just proximal to the sphincter, and a male-type
bladder neck. The veru looked entirely norma for a male in 5; in 2 it was
somewhat flattened. In each there was a small orifice, the vaginal communi-
cation, at the summit of the veru, visible in some only with considerable water
52 HENDREN AND CRAWFORD

@
urethral cath.

circumferential

Fig. 4.-Technic of simple cutback vaginoplasty, well suited for those infants in
whom the vagina lies low in the perineum, entering a urogenital sinus. Clitorectomy
can be performed simultaneously.

pressure. In 5 the panendoscope could be manipulated into this orifice, view-

ing directly the interior of a normal vagina and cervix. In 2 this was not ac-
complished, and verification depended upon radiographic evidence after in-
jection of dye.

SURGICAL CORRECTION
Low Placed Vagina
This is a simple operation, as shown in Figure 4, and has been employed
in previously reported cases. 15,16 A curved clamp is inserted into the uro-
genital sinus opening, tenting up the fused perineal skin, which is incised
posteriorly, suturing the cut edge of mucosa to the cut edge of skin. This
midline incision can be carried all the way posteriorly, but a preferred technic
ADRENOGENITAL SYNDROME 53

is to form an inverted U-flap to join with the back wall of the vagina? to
reduce tension in some cases where the vagina does not lie immediately be-
neath the skin. Clitorectomy can be performed after opening the vaginal in-
troitus. A circular incision is made about the base of the clitoris, and the cor-
pora are dissected off of the pubic rami. It is important to stay close to the
corpora to avoid injury to the external sphincter which lies between the pubic
rami and to the urethra, which can be maintained prominent by inlying Foley
catheter. The corpora are removed completely in order to leave no tissue
present which will become turgid and painful during erotic stimulation in
later life. Although partial clitorectomy and clitoral recessing have been ad-
vocated by some, we believe that total clitorectomy offers the best cosmetic
result18 and there is evidence that its removal does not adversely affect sexual
function in adult life.lQ

High Placed Vagina

If a simple cutback vaginoplasty is performed in a case where the vagina
communicates with the urethra proximal to the external sphincter, there is the
risk of causing stress incontinence, and one may be unable to bring the vagina
to the perineum without tension. In retrospect we have had 1 such patient
who was operated upon several years ago before it was our practice to panen-
doscope these children. In this girl the vagina was quite high and exterior-
ization difficult. She now has slight stress incontinence, very likely the result
of a cutback operation in which the vaginal opening was proximal to the
sphincter. Two other similar cases have been brought to our attention.O
The 7 cases we have corrected were operated upon by a variety of technic.
At first we employed a posterior parasacral approach, retracting the rectum
laterally to expose the vagina. Transperineal operations were performed on
the 2 subsequent cases, and in the last 4 the presently preferred technic illus-
trated in Figure 5 was used. First, as shown in Figure 5A, urethroscopy is
performed, inserting through the panendoscope a small Fogarty arterial em-
bolectomy catheter into the vagina, inflating its bag with 1 ml. of air, and
wedging it in the lower vagina at its junction with the urethra, This is of
great help in identifying the lower vagina with minimal dissection later. In
Figure 5B the urethra has been incised posteriorly, suturing mucosa to skin,
to a point 1 cm. distal to the external urethral sphincter which can be seen
easily through the panendoscope. Next an inverted U is made anterior to
the anus, the rectum having been previously prepared with neomycin irriga-
tion and gauze packing to prevent contamination. In Figure 5C the flap is
retracted posteriorly and the dissection is carried up along the anterior wall
of the rectum, staying behind the external urethral sphincter which lies be-
tween the 2 pubic rami. It is helpful to have an index finger in the rectum to
guide dissection along the anterior wall. Gloves are changed after this part of
the dissection and a plastic drape is placed over the anus. In Figure 5D the
lower vagina has been encircled with a tape or a small rubber catheter,
Having the Fogarty balloon in the lower vagina is of inestimable help in en-
circling it without fear of dissecting into the urethra or bladder. The posterior
wall of the vagina has been half transected in Figure 5D, leaving a small
54 HENDREN AND CRAWFORD

unihra incised

vagina hali
I/I4
-.
/I t
ii
\/
/
Posterior wall
of urethra

urogenital diaphragm

balloon in vagina

flap retracted

closed urethra
II bk,dd,er neck

Fig. 5.-A-H, Operative technic of pull-through vaginoplasty for infants in whom

the vagina enters the proximal urethra.
ADRENOGENITAL SYNDROME 55

/. \
6 II\
v* 1
flap sutured to
posterior wall of vagina

Superior
flop formed

Fig. 5 G-II

cuff on the urethra for subsequent closure. The Fogarty catheter is removed
after transection of the vagina and the urethral opening is closed with fine
chromic catgut sutures (Fig. 5E). After passing a metal sound of appropriate
caliber to assure a satisfactory urethral diameter, an indwelling Foley bladder
catheter is inserted. The urethra and bladder neck are retracted forward,
bluntly dissecting upward in the plane between the vagina and the bladder
for several centimeters, almost to the level of the cervix (Fig. 5F). The
cul-de-sac peritoneum is usually seen. In Figure 5G the posterior perineal
flap has been sutured to the posterior margin of the vagina. A high placed
vagina will not come down to the perineum without tension unless these flaps
56 HENDREN AND CRAWFORD

Fig. 6.-A, Preoperative photograph of an entirely male phallus, previously circum-

cised. No gonads palpable in scrotum. B, Following pull-through vaginoplasty
and clitorectomy. Small sound in urethra; large sound in the vaginal opening for
identification of these 2 orifices.

are made. A drain is left in the paravaginal space to evacuate serum post-
operatively. Figure 5H shows the construction of a similar flap anteriorly and
2 laterally, completing the repair.
A loose packing of Vaseline guaze is left in the vagina for one week post-
operatively and then gentle daily dilatations are carried out with Hegar di-
lators of appropriate size to make certain that stenosis does not occur during
healing. The urethral catheter is removed one week postoperatively. The
parents are instructed in the dilatation procedure which they carry out at
home at decreasing intervals for the first few months postoperatively until
healing has been completed and the perineal tissues are soft and supple. A
completed repair is shown in Figure 6. Corrections in 3 of our children were
accomplished at one year of age; the remaining 4 were done between 2 and
5 years of age, but we now see no reason for delay beyond age 1 year.
Clitorectomy is virtually always desirable in cases with the advanced de-
gree of virilization seen in the cases with posterior urethrovaginal communi-
cation. It can be performed together with vaginal pull-through or at a sepa-
rate operation beforehand or afterward.
In each of these 7 children the vagina has been exteriorized to the perineum
with a satisfactory result and without disturbing the urethral sphincter. They
should be able to have satisfactory intercourse in later life and fertility can
be anticipated.
DISCUSSION
Recognition of the type of anatomy seen in these 7 cases is of importance
ADRENOGENITAL SYNDROME 57

for three reasons: First, it will assure proper assignment of female gender to
these babies; secondly, it will alert one to the possibility of genitourinary
tract infection which can occur from trapping of urine in a vagina connected
to the proximal urethra (we have seen this in two cases); finally, we believe
that a pull-through vaginoplasty is to be preferred in these infants to a simple
cutback marsupialization procedure which should be reserved for those in
whom a low placed vagina enters a urogenital sinus separate from the ureth-
ral outlet.
The traditional cutback procedure has very likely been done in the past
in certain cases like those presented in this series. We think that there are
objections to it, however: (1) Stress incontinence can result from dividing the
external, voluntary urethral sphincter. This does not always occur but it is a
serious problem when encountered. (2) A high placed vagina can be under
some tension when sutured to the perineum with the usual cutback pro-
cedure, with resultant disruption and stenosis. (3) If the urethra is cutback
to within a few millimeters of the bladder neck the child may be especially
prone to urinary tract infection from having such a short urethra which can
give bacteria easy access to the bladder. This would seem especially likely in
later life during intercourse. (4) After a cutback procedure in a case with a
high vagina, during each micturition the urine is likely to fill the vagina,
which is undesirable. This is seen in many normals, especially obese girls,
during voiding cystograms, but drainage is usually prompt. If the vagina is
very high in the perineum, however, drainage may be delayed. All of these
disadvantages are averted by a pull-through procedure which gives separate
openings on the perineum for the urethra and the vagina.
Early operation at about 1 year of age is desirable to avoid genitourinary
tract infection and because it aids in acceptance of the infant as a female by
parents, siblings, and relatives. It is also highly desirable to complete this
potentially psychologically disastrous surgery before an age of awareness on
the part of the child.

SUMMARY

Female hermaphrodites with congenital adrenalcortical hyperplasia have

normal internal genitalia, i.e., tubes, ovaries, uterus, and upper vagina, but the
degree of virilization of the lower genitalia can vary greatly. Similarly, we
believe that the degree of masculinization of the lower urinary tract can vary
greatly in these female patients. In many the vagina lies just beneath the
perineum and can be exteriorized by a simple cutback procedure. This, to-
gether with clitorectomy which is usually desirable, is all that is required. In
other infants, however, the vagina enters the urethra quite high and proximal
to the external urethral sphincter. This anatomic variant may be much more
common than previously realized. A transperineal operation is presented by
which the high placed vagina can be brought down to the perineum without
injury to the external sphincter. It has been employed in 7 cases with satisfac-
tory results.
58 HENDREN AND CRAWFORD

SUMMARIO IN INTERLINGUA
Femininas con congenite hyperplasia adrenocortical ha normal genitales interne sed
varie grados de virilisation de lor genitales externe. In multe cases, in le quales le vagina
es basse (just0 infra le pelle perinee ), un simple vaginoplastia exterioratori con retro-
section suffice corn0 intervention corrective. In altere cases le vagina es in communica-
tion con le urethra posterior in sito proximal relative al externe sphinctere urethral. Un
operation tranperineal pote esser usate pro distachar le vagina ab su alte puncto de
origine e ducer lo al perineo con preservation de1 externe sphinctere urethral.

REFERENCES
1. Overzier, C.: Intersexuality. New York 11. Jacobson, A. W., Koepf, G. E., Talbot,
and London, Academic Press, 1963. N. B., and Wilkins, L.: The adrenal gland
2. Federman, D. D.: Abnormal Sexual in health and disease (panel discussion).
Development. Philadelphia and London, Pediatrics 3:533, 1949.
W. B. Saunders Co., 1967. 12. Madsen, P. 0.: Familial female pseu-
3. Wilkins, L.: The Diagnosis and Treat- dohermaphroditism with hypertension and
ment of Endocrine Disorders in Childhood penile urethra. J. Urol. 90:466, 1963.
and Adolescence, ed. 3. Springfield, Ill., 13. Maxted, W., Baker, R., McCrystal,
Charles C Thomas, 1965. H., and Fitzgerald, E.: Complete masculini-
4. Weldon, V., Blizzard, R., and Migeon, zation of the external genitalia in congenital
C.: Newborn girls misdiagnosed as bilat- adrenal hyperplasia. Presentation of two
erally cryptorchid males. New Eng. J. Med. cases. J. Urol. 94:266, 1965.
274:829, 1966. 14. Paquin, A. J., Jr., Baker, D. H., Finby,
5. Rosenberg, B., Hendren, W. H., and N., and Evans, J. A.: The urogenital sinus:
Crawford, J. D.: Posterior Urethrovaginal Its demonstration and significance. J. Urol.
communication in apparent males with con- 78:796, 1957.
genital adrenocortical hyperplasia. New Eng. 15. Jones, H. W., Jr., and Jones, G.E.S.:
J. Med. In Press. The Gynecological Aspects of adrenal hy-
6. Ainger, L. E., Capata, G. C., Ely, perplasia and allied disorders. Amer. J.
R. S., and Kelley, V. C.: Female pseudo- Obstet. Gynec 68: 1330, 1954.
hermaphroditism with penile urethra: Re- 16. Meeker, I. A.: Intersex. In: Benson,
port of unusual case of congenital adrenal C. D., Mustard, W. T., Snyder, W. H., and
hyperplasia. Amer. J. Dis. Child. 95:410, Welch, K. J. (Eds.): Pediatric Surgery.
1958. Chicago, Year Book Medical Publishers.
7. Bentinck, R. C., Lisser, H., and Reilly, 1962, Chapter 66.
W. A.: Female pseudohermaphrodism with 17. Fortunoff, S., Lattimer, J. K., and
penile urethra masquerading as precocious Edson, M.: Vaginoplasty Technique for Fe-
puberty and cryptorchidism. J. Clin. En- male Pseudohermaphrodites. Surg. Gynec.
docrin. Metab. 16:412, 1956. Obstet. 118:545, 1964.
8. Matheson, W. J., and Ward, E. M.: 18. Gross, R. E., Randolph, J., and Crig-
Hormonal Sex Reversal in a Female. Arch. ler, J. F.: Clitorectomy for sexual abnor-
Dis. Child. 29:22, 1954. malities: Indications and technique. Surgery
9. Perloff, W. H., Conger, K. B., and 59:300, 1966.
Levy, L. M.: Female pseudohermaphrodism: 19. Hampson, J. G.: Hermaphroditic
Description of two unusual cases. J. Clin. genital appearance, rearing and eroticism in
Endocrin. Metab. 13:783, 1953. hyperadrenocorticism. Bull. Johns Hopkins
10. Reilly, W., Hinman, F., Pickering, D., Hosp. 96:265, 1955.
and Crane, J.: Phallic urethra in female 20. Leadbetter, W. F.: Personal commu-
pseudohermaphroditism. Amer. J. Dis. Child. nication.
95:9, 1958.