Congenital Adrenal Hyperplasia: What It Is and How It's Treated

A person with congenital adrenal hyperplasia (or CAH) doesn't make enough of the hormones cortisol and aldosterone, and make too much androgen, which is a male sex hormone. If you have CAH, your adrenal gland tries to make cortisol and aldosterone, but it can't make enough. CAH is usually diagnosed at birth or in early childhood.

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

People with 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 with mild CAH often have irregular periods. They may have trouble getting pregnant.

If you and your partner have any form of CAH, your children might also have it. Remember, some people can have mild CAH and not know it, so you should tell your doctor as soon as you think you or your partner may be pregnant. A baby can be treated before he or she is born if the mother takes the medicine. If your baby has CAH, treatment should begin as soon as you know you are pregnant.

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. Your doctor may order a blood test if there are signs that your infant or child has CAH.

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.