Children's Hospital Colorado

Congenital Adrenal Hyperplasia

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What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia, also known as CAH, is a problem in the adrenal glands. Adrenal glands are located at the top of the kidneys.

The adrenal glands make several hormones in the body, such as cortisol, aldosterone and androgens (testosterone-like hormones). With CAH, the body cannot make enough cortisol and aldosterone, and it makes too many androgens.

Cortisol regulates blood pressure, blood sugar and energy, and it helps the body recover from illness. Aldosterone helps keep the body’s salt levels normal. Androgens are hormones that start puberty and are important for normal growth and development in boys and girls. CAH can be a life-threatening problem in babies, so it is important to find out early and to start treatment right away if someone has CAH.

What causes congenital adrenal hyperplasia?

CAH is caused by a mutation (change) in a gene that alters how the adrenal glands make cortisol and aldosterone. Usually, both parents are carriers of the gene mutation, but often do not have CAH themselves because only one out of two versions of their gene carries the mutation, while the other is normal. However, if a child gets an abnormal gene from each parent (resulting in both versions of the gene carrying a mutation), then the child will have CAH.

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