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OVERVIEW

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia, or CAH, is a disorder that affects the adrenal glands. The adrenal glands produce hormones, including sex hormones and cortisol and aldosterone. A person who has CAH doesn’t make enough of the hormones cortisol and aldosterone, and makes too much androgen, which is a male sex hormone. CAH is usually diagnosed at birth or in early childhood. Both boys and girls can have CAH.

SYMPTOMS

What are the symptoms of CAH?

Female children who have severe CAH might be born with ambiguous genitalia. This means that their genitals may look more male than female. As they get older, girls who have CAH may develop facial hair and a deep voice, and they may have abnormal menstrual periods or no periods at all. Boys who have CAH often have well-developed muscles and develop masculine features early.

People who have CAH may be shorter than most average adults. They may have acne and blood pressure problems. When they get colds and sinus infections they don’t get better as quickly as other people do. Women who have mild CAH often have irregular periods. They may have trouble getting pregnant.

DIAGNOSIS & TESTS

If I have CAH, will my children get it?

If you or your partner has any form of CAH, your children might also have it. If you are pregnant and there is a history of CAH in your family, your healthcare provider may recommend that you have an amniocentesis or chorionic villus sampling. These tests can diagnose CAH before your baby is born. If your baby has CAH, your healthcare provider can give you medicine to treat your baby even before they are born. Treatment should begin as soon as possible once CAH is diagnosed.

How is CAH diagnosed?

If you are pregnant or trying to get pregnant and there is a history of CAH in the family, contact your healthcare provider about genetic testing.

If there are signs that your infant or child has CAH, your healthcare provider will examine your child. Your healthcare provider may order a blood test or urine test to confirm a diagnosis. The test results will show if the levels of cortisol, aldosterone and androgens are abnormal.

TREATMENT

What treatment is available for CAH?

Right now, there is no cure for CAH, but there is treatment. Your healthcare provider will prescribe a hormone replacement medicine that will need to be taken every day. The goal of treatment is to get the hormones to a normal level. Extra cortisol may need to be taken during times of stress, such as surgery.

Your healthcare provider will closely monitor your child to make sure there are no side effects from the medicine. Your healthcare provider will also order regular blood tests to make sure the medicine is keeping your child’s hormone levels properly balanced.

QUESTIONS TO ASK YOUR HEALTHCARE PROVIDER

• What is the likely cause of my child’s condition?
• If my child has congenital adrenal hyperplasia, could our other children have it too? Do I have it?
• We’ve considered having another child. Will that child be at risk?
• What is the best treatment option? Will my child need to take medicine? For how long?
• Is my child at risk for any long-term health problems?

Sources

Congenital Adrenal Hyperplasia: Not Really a Zebra by MA Deaton, JE Glorioso, DB McLean (03/01/99, http://www.aafp.org/afp/990301ap/1190.html)