An inherited condition, the adrenogenital syndrome – also known as congenital adrenal hyperplasia – is an uncommon disorder aﬀecting about 1 baby in 7,500. The condition is present from birth and causes various ENZYME defects as well as blocking the production of HYDROCORTISONE and ALDOSTERONE by the ADRENAL GLANDS. In girls the syndrome often produces VIRILISATION of the genital tract, often with gross enlargement of the clitoris and fusion of the labia so that the genitalia may be mistaken for a malformed penis. The metabolism of salt and water may be disturbed, causing dehydration, low blood pressure and weight loss; this can produce collapse at a few days or weeks of age. Enlargement of the adrenal glands occurs and the aﬀected individual may also develop excessive pigmentation in the skin.
When virilisation is noted at birth, great care must be taken to determine genetic sex by karyotyping: parents should be reassured as to the baby’s sex (never ‘in between’). Blood levels of adrenal hormones are measured to obtain a precise diagnosis. Traditionally, doctors have advised parents to ‘choose’ their child’s gender on the basis of discussing the likely condition of the genitalia after puberty. Thus, where the phallus is likely to be inadequate as a male organ, it may be preferred to rear the child as female. Surgery is usually advised in the ﬁrst two years to deal with clitoromegaly but parent/ patient pressure groups, especially in the US, have declared it wrong to consider surgery until the children are competent to make their own decision.
Other treatment requires replacement of the missing hormones which, if started early, may lead to normal sexual development. There is still controversy surrounding the ethics of gender reassignment.