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Congenital Adrenal Hyperplasia

Alternative names: Adrenogenital Syndrome; 21-Hydroxylase Deficiency

What is congenital adrenal hyperplasia?
What are the signs of congenital adrenal hyperplasia?
What causes congenital adrenal hyperplasia?
How does my doctor tell if I have congenital adrenal hyperplasia?
How is congenital adrenal hyperplasia treated?

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) is an inherited disorder that is present at birth. It affects the adrenal glands, causing them to produce low levels of the hormones cortisol and aldosterone, and high levels of male sex hormones (androgens). There are two forms of CAH: non-classical (the most common and least severe), and classical CAH. Non-classical CAH is one of the most common genetic disorders.

What are the signs of congenital adrenal hyperplasia?

Non-classical CAH has milder symptoms. These can appear at any time, from infancy through adulthood, and can include:

  • Rapid growth in early childhood, followed short stature as an adult
  • Excessive hair growth (hirsutism)
  • Acne
  • Irregular menstrual periods in females
  • Infertility

In addition to the above symptoms, classical CAH can cause:

  • Abnormal genitals in female infants, including an enlarged clitoris
  • A deepening of the voice, as early as two to three years of age
  • Pubic and armpit hair in young children, as early as two to three years of age
  • An adrenal crisis, which can result in dehydration, shock, and death if not treated

What causes congenital adrenal hyperplasia?

CAH is an inherited condition that is caused by a genetic mutation. A child must inherit one copy of the defective gene from each parent. People with CAH lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.

About 1 of 60 people in the general United States population is a carrier of the defective CAH gene. A child conceived between two carriers has a 25% chance to have CAH.

How does my doctor tell if I have congenital adrenal hyperplasia?

Screening tests for CAH are often done at birth, usually by pricking the heel of the baby to get a blood sample. Such common tests measure the levels of adrenal hormones in the baby's blood.

In-depth genetic testing is done:

  • To confirm a diagnosis of CAH
  • To determine if someone is a carrier of CAH. A carrier does not have CAH, but can conceive a child with CAH with another carrier.
  • To determine if an unborn child has CAH. Parents who already have a child with CAH may want to know if their unborn child will have the disorder. Genetic testing of the fluid around the fetus can tell if the child will have CAH.

How is congenital adrenal hyperplasia?

CAH is treated with hormone replacement medications. Both boys and girls with CAH take synthetic cortisol to control the production of male hormones. This medication is often taken as a pill, two or three times a day. Patients with classical CAH may need medication to replace missing aldosterone.

Girls born with CAH whose genitals have masculine characteristics will need surgery to correct the abnormalities. Such surgery is usually done before the child is three months old.

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