Congenital adrenal hyperplasia in adults

Abstract

Hyperandrogenism in congenital adrenal hyperplasia (CAH) results from overstimulation of adrenocorticotropic-driven androgen production in the adrenal cortex due to lack of cortisol feedback. The classical form is characterized by more-severe symptoms of hyperandrogenism, including virilization of the female genitalia. The milder nonclassical form presents with postnatal symptoms of hyperandrogenism. Presenting symptoms in adulthood may include acne, male-pattern alopecia, hirsutism, irregular menses/amenorrhea or infertility. The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH but new treatment strategies continue to be developed and studied.

Keywords: 21-hydroxylase; androgen excess; bone mineral density; congenital adrenal hyperplasia; cytochrome P450 21A2; fertility; glucocorticoid replacement; hirsutism; polycystic ovarian syndrome.