HERMAPHRODITISM

TRUE HERMAPHRODITE

It is an individual, who has both ovarian and testicular tissue, which may be in the form of an ovary on one side and a testis on the other, or in the form of a combined form, an ovotestis. This type is not seen often by the clinician. When it occurs, it is usually a patient with the 46,XX karyotype, with fairly normal ovarian tissue but with degenerate testicular tissue. Female genital ducts are usually present, and may be accompanied by the male genital ducts, which if present would be on the same side as that of the mixed gonad which contained large amounts of testicular tissue.The aetiology of this condition is unknown at the present time.

PSEUDOHERMAPHRODITE

It is of two types. Male and female pseudohermaphrodites.

Male pseudohermaphrodite

A common entity that belongs to this group is the Testicular Feminization Syndrome or the Androgen Insensitivity Syndrome. The chromosome complement is 46,XY, the gonads are testes but the genital ducts and the external genitalia are female. The testes do not undergo normal descent and remain abdominal, in the inguinal canal or lodged in the labia majora. The testes function in producing testosterone and mullerian inhibiting factor. Consequently, the uterine tubes, the uterus and the upper part of the vagina fail to develop, they being derivatives of the mullerian or paramesonephric ducts.

The lack of testosterone sensitivity due to the absence of receptors or the absence of the testosterone receptor protein at target tissues which bind testosterone and dihydrotestosterone, lead to development of the female body habitus. The lack of testosterone activity also leads to the failure of the development of mesonephric derivatives which are testosterone dependent. The clinical features are, a female phenotype with a 46,XY karyotype, primary amenorrhoea, paucity of pubic and other body hair, blind vaginal pouch and intrabdominal testes.

Other male pseudohermaphrodites have various enzyme defects in the many stages of androgen production.

Female pseudohermaphrodite

Here the individual has a 46,XX chromosome complement, a definite female body habitus, female gonads and genital ducts, but the external genitalia are ambiguous. There may be many causes of this condition. Maternal exposure to virilizing drugs or rarely the mother having a virilizing tumour or virilizing endocrine disorder may produce a female pseudohermaphrodite. The most common one is the adrenogenital syndrome caused by congenital adrenal hyperplasia. Usually there is a congenital lack of certain adrenal cortical enzymes of the foetal adrenal gland, needed for steroid metabolism. This results in an accumilation of androgens in the foetus. The androgenic stimulation usually occurs after the gonads and genital ducts have passed a critical period, but while the developing external gonads are still sensitive.