Overview

Congenital adrenal hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above your kidneys. A person with CAH lacks one of the enzymes the adrenal glands use to produce hormones that help regulate metabolism, the immune system, blood pressure and other essential functions.

CAH affects the production of one or more of three steroid hormones: cortisol, which regulates your body's response to illness or stress; mineralocorticoids, such as aldosterone, which regulate sodium and potassium levels; or androgens, such as testosterone, which are sex hormones. In many cases, CAH results in lack of cortisol and overproduction of androgen.

The milder and more common form of CAH is called nonclassic. The classic form, which is more severe, can be detected in newborn screening programs. Some forms of CAH can cause problems with normal growth and development in children and even be life-threatening.

Although there is no cure, with proper treatment, most people with congenital adrenal hyperplasia can lead normal lives.