Congenital Adrenal Hyperplasia - CAH
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by several distinct enzymatic defects that result in changes in steroidogenesis. These disruptions cause irregular genital and sexual characteristics, and interfere with electrolyte balance. Newborn screening detects elevations in 17-hydroxyprogesterone (17-OHP). Other forms of CAH without significant 17-OHP increases are often not identified until later in life due to their more subtle clinical presentations. Initial testing generally involves 17-OHP testing and, if 17-OHP is increased, adrenocorticotropic hormone (ACTH) testing.
Last Update: October 2019