Dr. MJ Bazos MD, Patient Handout

Congenital Adrenal Hyperplasia

What is congenital adrenal hyperplasia?

A person with congenital adrenal hyperplasia (or CAH) doesn't make enough cortisol. Cortisol is a hormone that helps your body in times of physical stress. If you have CAH, your adrenal gland tries to make cortisol, but it can't make enough. CAH is usually diagnosed at birth or in early childhood.

What are the symptoms of CAH?

Female children with severe CAH might be born with male genitals. All children with severe CAH have masculine features (such as excess facial hair), grow quickly but stop growing before they should, have difficulty fighting off even small infections and may have trouble keeping enough salt in their bodies.

However, people with mild CAH are sometimes never diagnosed. They may be shorter than either of their parents, yet still be of normal height. 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 may have genitals that don't look like other women's genitals.

They may have square shoulders and narrow hips. Sometimes they have too much hair on their faces. Women with mild CAH often have irregular periods. They often have trouble getting pregnant.

How does my doctor know I have CAH?

Based on your symptoms and the results of your physical exam, your doctor may order blood tests to see if you have CAH.

What treatment is available for CAH?

Right now, there is no cure for CAH, but there is treatment. Some people with mild CAH may not need to take medicine all the time. They may only need to take cortisol when they are sick. Other people need to take cortisol every day.

If I have CAH, will my children get it?

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.