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.
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.
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 doctor 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 doctor can give you medicine to treat your baby even before he or she is born. Treatment should begin as soon as possible once CAH is diagnosed.
If you are pregnant or trying to get pregnant and there is a history of CAH in the family, talk to your doctor about genetic testing.
If there are signs that your infant or child has CAH, your doctor will examine your child. Your doctor 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.
Right now, there is no cure for CAH, but there is treatment. Your doctor will prescribe a form of cortisol 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.
Congenital Adrenal Hyperplasia: Not Really a Zebra by MA Deaton, JE Glorioso, DB McLean (American Family Physician March 01, 1999, http://www.aafp.org/afp/990301ap/1190.html)
Written by familydoctor.org editorial staff