Congenital Adrenal Hyperplasia
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What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) affects your adrenal glands. These glands sit atop your kidneys and produce different hormones. CAH causes you to have irregular hormone levels. CAH is a rare, genetic disorder you are born with. Both boys and girls can have CAH.
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
- 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 infertility issues later on. 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.
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.
DIAGNOSIS & TESTS
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 healthcare provider can diagnose it. Blood tests can check your hormone levels. Genetic tests also can confirm the disorder.
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 healthcare provider. They 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 healthcare provider may give them medicine to help correct hormone levels.
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 healthcare provider may 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 healthcare provider’s orders.
Living with congenital adrenal hyperplasia
Currently, there is no cure for CAH. Your healthcare provider 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.