congenital adrenal hyperplasia (CAH)

congenital adrenal hyperplasia (CAH), a group of disorders that have in common an enzyme defect resulting in low levels of cortisol and increased secretion of adrenocorticotropic hormone. The net effects are adrenal gland hyperplasia and increased production of cortisol precursors and androgens. During intrauterine life the disorder leads to pseudohermaphroditism in female infants and macrogenitosomia in male infants. Treatment involves hydrocortisone therapy and reconstructive surgery. See also adrenal virilism, macrogenitosomia, pseudohermaphroditism.

Pseudohermaphroditism associated with congenital adrenal hyperplasia (Zitelli and Davis, 2012)