Congenital Adrenal Hyperplasia

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) affects your adrenal glands. These glands sit atop your kidneys and produce different hormones cortisol and aldosterone. Both are essential for life. People who have the condition lack an enzyme to make the hormones. CAH also causes the adrenal glands to over-produce the male sex hormone androgen. This hormone causes males characteristics to appear early or inappropriately (in the case of women).

Symptoms of congenital adrenal hyperplasia

CAH symptoms vary based on the degree of your condition. Severe cases usually show up before or at birth. Females can be born with unclear genitals. This means that their genitals may look more male than female. As they get older, girls could develop facial hair and a deep voice. They also may have abnormal or no menstrual periods. Boys can be born with an enlarged penis.

Other severe CAH symptoms for girls and boys can start a few weeks after birth. These include:

• Uneven heart rate
• Poor eating or feeding
• Vomiting
• Dehydration
• Abnormal electrolyte levels

Most people who have CAH have a mild form. Symptoms are delayed until childhood or puberty. Boys can develop muscles and masculine features early. Girls can have irregular periods and eventually, infertility issues. They also may have some masculine features.

People who have CAH often are tall as children, but shorter than average as adults. They may have worse acne and blood pressure problems. When they get colds or infections, it can take them longer to recover.

What causes congenital adrenal hyperplasia?

We produce hormones in our adrenal glands. People who have CAH lack all or part of an enzyme to make correct hormone levels. They don’t make enough cortisol and aldosterone. They make too much of a male sex hormone called androgen.

How is congenital adrenal hyperplasia diagnosed?

CAH can be diagnosed before or at birth, or later in life. The timeframe depends on the degree of your condition. The more severe it is, the earlier your doctor can diagnose it. Blood tests can check your hormone levels. Genetic tests also can confirm the disorder.

Some states include CAH in newborn screening done at the hospital. This is part of the heel-prick blood process. The sample checks for several congenital diseases.

Can congenital adrenal hyperplasia be prevented or avoided?

You cannot prevent CAH. It is a genetic disorder. You can get it from your parents or a random gene mutation. If you have the condition, you can pass it on to your children.

If you are planning a family and you or someone in your family has CAH, talk to your doctor. Your doctor may suggest an amniocentesis or chorionic villus sampling. These tests can diagnose CAH before your baby is born. If your baby has CAH, they can get treatment in the womb. Your doctor can give them medicine to help correct hormone levels.

Congenital adrenal hyperplasia treatment

The main goal of CAH treatment is to manage your hormones. You want them to be normal or as close to normal as possible. Hydrocortisone increases your cortisol level. You may need extra medicine when you are stressed or sick. The use of steroids is common. Your doctor will prescribe a dose that replaces the hormones you can’t produce naturally. This medicine usually has low or no side effects. Do not stop taking steroids without your doctor’s orders.

Babies who are born with unclear genitals may require surgery. Your doctor will check chromosomes to confirm the genetic sex. This is called karyotyping.

Living with congenital adrenal hyperplasia

Currently, there is no cure for CAH. Your doctor will want to closely monitor your hormone levels. They will order routine blood tests to ensure your medicine is working. Some symptoms of CAH may be hard to handle on an emotional level. You might consider a support group or therapy to help.

Questions to ask your doctor

• If I have CAH, what are the chances I will pass it to my baby?
• Does having CAH make it more difficult to get pregnant?
• Are there any long-term health problems associated with CAH?
• Can you recommend a support group for people who have CAH?

Resources

National Adrenal Diseases Foundation: Congenital Adrenal Hyperplasia (CAH)

National Institutes of Health, MedlinePlus: Congenital adrenal hyperplasia