Overview
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting your adrenal glands. You have one adrenal gland on top of each kidney. The adrenal glands produce important hormones your body needs to function properly. These hormones include:
- Cortisol: Cortisol helps your body respond to illness, injury and stress. It’s also in charge of regulating your body’s blood pressure, energy levels and blood sugar levels.
- Aldosterone: Aldosterone helps your body maintain the correct levels of salt (sodium) and water. It also controls your blood pressure and blood volume.
- Androgen: Androgens are male sex hormones such as testosterone. They help kick off puberty and play an important role in normal growth and development.
If you have CAH, you lack a specific enzyme your adrenal glands need to make one or more of these hormones. Without this enzyme, your adrenal glands:
- May not produce enough cortisol.
- May not produce enough aldosterone.
- May produce too much androgen.
What are the different types of congenital adrenal hyperplasia (CAH)?
Two main types of CAH make up 95% of all cases. These types are classic congenital adrenal hyperplasia and nonclassic congenital adrenal hyperplasia.
Classic congenital adrenal hyperplasia (CAH)
Classic CAH is the more serious form of the disease. It can cause adrenal complications such as shock and coma. If not found and treated early, it can be fatal. Diagnosis of classic CAH typically happens at birth. There are two subtypes of classic CAH:
- Salt-wasting CAH: Salt-wasting is the most severe form of CAH. If you have salt-wasting CAH, your adrenal glands produce too little aldosterone. Without enough aldosterone, your body can’t regulate the salt (sodium) levels in your blood. Low levels of aldosterone result in too much sodium being lost from your body through your pee (urine). In addition, your body produces too little cortisol and makes too much androgen.
- Simple-virilizing CAH: Simple-virilizing or non-salt wasting is a more moderate form of CAH. If you have this type, your aldosterone deficiency is less severe. There aren’t any life-threatening symptoms. But your body still doesn’t produce enough cortisol and makes too much androgen. The increase in androgens may cause symptoms related to sexual development.
Nonclassic congenital adrenal hyperplasia (CAH)
Nonclassic CAH is the mildest form of CAH. It usually doesn’t show up until later in childhood, adolescence or adulthood. You may or may not see symptoms. The overproduction of androgens may cause symptoms related to sexual development.
There are several other rare forms of CAH, which each have different symptoms.
Who does congenital adrenal hyperplasia affect?
Congenital adrenal hyperplasia can affect anyone. It affects infants, children and adults.
How common is congenital adrenal hyperplasia?
Classic CAH affects as many as 1 in every 10,000 to 15,000 people living in the United States and Europe. Nonclassic CAH affects about 1 in every 100 to 200 people. Both classic and nonclassic CAH affect people worldwide.
Symptoms
When to see a doctor
Complications
- High blood pressure.
- Diabetes.
- Heart failure.
- Some types of heart valve disease.
Prevention
- Control high blood pressure, high cholesterol and diabetes.
- Don't smoke or use tobacco.
- Eat a diet that's low in salt and saturated fat.
- Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
- Get good sleep. Adults should aim for 7 to 9 hours daily.
- Maintain a healthy weight.
- Reduce and manage stress.
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