Ambiguous Genitalia
Ambiguous genitalia means that, at birth, the external genitalia - the clitoris and vulva in the female, the penis and testicle in the male - are not clearly defined. This is a rare condition: the most common cause is overgrowth and overactivity of part of the adrenal gland - the gland above the kidney which produces a number of hormones including cortisol and the sex hormones. This is called congenital adrenal hyperplasia, and it happens because there is a defect in the synthetic pathway; there is absence of one of the enzymes. This causes the increased stimulation of the adrenal gland by a stimulating factor from the pituitary: the level of testosterone (the male sex hormone) increases and, if the foetus is female, the genitalia become virilized - which means they become male in appearance. There is overgrowth of the clitoris, so that it resembles a penis, and the outer lips of the vulva - the labia majora - are bulky and fused together, so that they resemble the male scrotum (albeit one with absent testicles). Establishing the true sex by chromosome analysis and using ultrasound to visualize the internal sexual organs - the uterus and ovaries - will aid management. Surgery will be necessary to modify the genitalia and produce a normal female genital tract and replacement of the deficient hormones will be required.
There are other causes of so-called intersex states, involving inadequate virilization of the male foetus, producing a male infant with external female genitalia. In some it may be better to raise the infant as a female, because it is impossible to create a fully functioning penis using surgery.
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