Video - Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that affect the glandular cells in the adrenal cortex. This produces abnormal amounts of certain hormones, including cortisol, aldosterone, and androgen. These hormones are responsible for many essential functions in the body, including stress response, blood pressure, and kidney function.

There are several forms of CAH, each caused by a specific gene mutation. The most common form is called 21-hydroxylase deficiency, caused by a mutation in the CYP21A2 gene. 21-hydroxylase deficiency presents with masculinization in women and salt wasting, and hypoglycemia.