Congenital adrenal hyperplasia (CAH) is a genetic defect in the adrenal glands. There is an enzyme block that usually leads to a deficiency in the production of two key hormones: cortisol and aldosterone. Cortisol and aldosterone are responsible for maintaining appropriate sugar levels, blood pressure levels, and salt balance. Living with CAH requires extra attention to common illnesses and stress (ie fever, injury, or surgery). During stress, extra cortisol is normally secreted to maintain normal function. Patients with CAH often need lifetime replacement of cortisol and aldosterone, as well as stress dosing of cortisol as needed. In addition, because there is a blockade in the enzyme pathway, there can be a build-up of male hormones (androgens). These androgens can lead to the masculinization of an infant girls’ genitalia, called ambiguous genitalia. The Colorado Newborn Screen tests for CAH.
CARES (Congenital Adrenal Hyperplasia Research, Education, and Support) Foundation: