Overview

Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys. The adrenal glands produce important hormones, including:

• Cortisol, which regulates the body's response to illness or stress
• Mineralocorticoids, such as aldosterone, which regulate sodium and potassium levels
• Androgens, such as testosterone, which are male sex hormones

In people who have CAH, a genetic problem results in a lack of one of the enzymes needed to make these hormones.

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

There are two major types of congenital adrenal hyperplasia:

• Classic CAH. This form is rarer and is usually detected in infancy. Approximately two-thirds of people who have classic CAH have what's known as the salt-losing form, while one-third have what's referred to as the simple-virilizing form.
• Nonclassic CAH. This form is milder and more common, and may not become evident until childhood or early adulthood.