Definition

Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that affect the adrenal glands. The glands may have trouble making these hormones:

  • Cortisol—helps the body react to stress and infections
  • Aldosterone—helps the body keep normal levels of sodium and potassium

The adrenal gland may also make too much of a hormone called androgen. Both boys and girls have this hormone. It helps male features develop.

Causes

CAH is a genetic disorder. It is passed from the parents to the child.

The symptoms of CAH are caused by problems in the adrenal glands. In CAH, the glands may have trouble making one or both of the following hormones:

  • Cortisol—helps the body respond to stress and infections
  • Aldosterone—helps the body maintain normal levels of sodium and potassium

The adrenal gland will work harder to try to produce more of the missing hormones. This can lead to an overproduction of another hormone called androgen. This hormone is present in boys and girls, but is responsible for the development of male features. Other adrenal hormones may affect how the body handles salt and water.

Adrenal Glands

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Risk

A family history of CAH will raise your child's chance of having it.

Symptoms

Symptoms depend on the type of CAH and your child’s gender. Your child may have:

  • Features in newborn girls:
    • Unclear genitalia
    • Parts of the external genitalia may look like a penis
  • Features of early puberty in boys as young as two to three years old:
    • Muscle growth
    • Penis growth
    • Having pubic hair
    • Having a deepening voice
  • Excessive facial and body hair
  • Fast growth compared to peers—through most children will stop growing sooner than their peers and are often short as adults
  • Problems fighting infections and illnesses
  • Dehydration
  • Loss of hunger
  • Weight loss
  • Severe acne
  • Weakness
  • Fever
  • Nausea and vomiting
  • Belly pain
  • Diarrhea
  • Bluish skin color
  • Confusion

Diagnosis

Testing may be done during pregnancy, just after birth, or after symptoms happen.

Testing may be done during pregnancy if there is a family history of CAH, such as if the baby’s brother or sister has the disease. Tissue or amniotic fluid may be taken for testing. This can be done with:

In the US, all newborn children are screened for CAH. The test involves getting a small sample of blood from the baby’s heel. The blood will be checked for hormone levels.

To diagnose older children or those who weren’t screened, you will be asked about your child’s symptoms and health history. A physical exam will be done. Your doctor may take a small amount of blood and urine to test hormone levels.

If the tests are not clear, genetic tests may be ordered. This is done with blood tests.

Treatment

You and your child may be referred to a specialist. Talk with their doctor about the best plan for your child. With treatment, your child can have a normal life. Your child may need:

Prenatal treatment

If CAH is found before birth, medicine may be used to lower the level of androgens. It is given to the mother during pregnancy. It may allow female genitalia to grow the right way. It does not stop CAH.

Dietary changes

Missing aldosterone can cause salt wasting. This is a problem keeping the right amount of salt in the blood. It can lead to low blood pressure and a high potassium level. If your child has salt wasting, table salt may need to be added to foods.

Medications

Most children need to take hormone replacement medicines. The type of medicine will depend on your child's condition. The medicine will also help slow the gland from making androgens. This will lower the growth of male features in girls.

High doses of these medicines can have side effects like slowing growth or lowering bone mass. They can also lead to obesity and to a condition called Cushing disease. Your child will be checked often. Medicines will be changed as needed.

Some children need to take a medicine to replace cortisol. Cortisol is needed during stressful situations and illness. If your child is taking medicine to replace it, he or she may need extra doses during stressful events. Your child's doctor will make a medicine plan with you.

Depending on the type of CAH, medicine may need to be taken for the rest of your child's life.

Wear a medical alert bracelet that states adrenal insufficiency. This will let others know of your child's condition if he or she is unable to tell someone about it.

Surgery

Surgery can correct unusually formed genitalia. It is often done when the child is between 1-3 years of age.

Prevention

CAH can’t be prevented.

If someone in your immediate family has CAH, talk to your doctor about genetic testing. This is important if you are expecting or planning to have a child.