Publication at Second Faculty of Medicine |
2006
Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease affecting the adrenal cortex. Approximately 90-95% of cases are 21-hydroxylase deficiency, which results in insufficient production of glucocorticoids and mineralocorticoids and, conversely, excessive production of androgens.
As a result, the female fetus is already prenatally exposed to high levels of adrenal androgens and is virilized. The result is female pseudohermaphroditism; boys are born without conspicuousness.