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It is incomplete sexual differentiation into either male or female

1. Chromosomal abnormalities (Chromosomal Intersex)

a. Turner syndrome. The individual is a female with 45 chromosomes (45X0) b Klnefilter syndrome. The individual is a male having 47 chromosomes (47XXY). The testes and external genital organs are underdeveloped with azoospermia. There is gynaecomastia and female distribution of pubic hair.

1. Chromosomal abnormalities (Chromosomal Intersex)

c. The triple X syndrome. The individual is a female with 47 or 48 chromosomes (47XXX) or (48XXXX). d. Abnormal Y chromosome number. The individual is a male with 47XYY, or 48XXYY. He is usually taller than normal and mentally retarded. e. Mixed gonadal dysgenesis. One testis is replaced by a streak gonad. The karyotype is mosaic; 45X0/46XY.

2. Gonadal Abnormalities (Gonadal Intersex)

1. a.The true hermaphrodite. The individual has

both testicular and ovarian tissues in different combinations. The sex chromosomes may be male (XY) or female (XX) or mosaic, i.e. some cells are XX and others are XY. The external appearance (phenotype) may be male or female. The external genital organs may be male or female or ambiguous.

2. Gonadal Abnormalities (Gonadal Intersex)

1. b.

Pure gonadal dysgenesis. The gonads are in the form of fibrous bands (streak gonads). The external appearance is female. The internal and external genital organs are female but remain infantile due to absence of gonads. The chromosomal arrangement (karyotype) is 46XX or 46XY (Swyer syndrome).

2. Gonadal Abnormalities (Gonadal Intersex)

1. c.

Sex inversion. The external appearance is a male with testes but the chromosomes are 46 XX, so there is sex inversion or deviation between chromosomal and gonadal constitution.

3. Hormonal Disturbances

a. Adrenogenital Syndrome

1. i. Intrauterine adrenogenital syndrome (congenital adrenal

hyperplasia) due to failure of synthesis of cortisol from 17hydroxyprogesterone leading to absence of the feedback mechanism with increased production of ACTH and hyperplasia of the adrenal cortex and production of androgenic substances. There is virilization of the female fetus with enlargement of the clitoris, fusion of labia minora and ffirsutism. The uterus remains infantile and fails to menstruate.

3. Hormonal Disturbances

a. Adrenogenital Syndrome

1. ii.Postnatal adrenogenital syndrome; due to

androgenic tumour of the adrenal cortex (adenoma or carcinoma).

3. Hormonal Disturbances

a. Adrenogenital Syndrome

1. b.

Virilization of the female fetus may occur if the pregnant mother has a virilizing ovarian tumour or receives androgens or progestogens during pregnancy.

4. End-organ Resistance

An example is testicular feminization

5. Psychological Intersex

a. Homosexuality. The person is attracted to the same sex. b. Transvestism. The person has a desire to wear the clothes of the opposite sex. c. Transsexuality. It is the desire to change sex by operation.


1. 1.Buccal smear. If two X chromosomes are

present, a chromatin mass or Barr body will be

seen beneath the nuclear membrane of the cell,

so the female cell is chromatin positive while the male cell is chromatin negative (the Barr body is present in 20-50 per cent of the female epithelial cells).

3. 2.Examination of neutrophils. The chromatin

mass gives a "drum stick" appearance to one

of the lobes of the nucleus. It is present in

200/o of the neutrophils of the female subject.

3. Chromosomal culture. Skin, blood or bone marrow is cultured by special methods to determine the number and shape of chromosomes. 4. Hormonal estimations in blood and urine.

5. Examination of internal genital organs by ultrasound, laparoscopy and laparotomy. Histological examination of the gonad is decisive. 6. CT scan or MRI of the sella turcica and adrenal gland to diagnose a tumour.

Pseudohermaphroditism means the gonads

belong to one sex and the external genital organs

belong to the other sex. If the gonads are ovaries the individual is a female pseudohermaphrodite, e.g. adrenogenital syndrome. If the gonads are testes the individual is a male

pseudohermaphrodite, e.g. testicular feminization