Definition  

Congenital adrenal hyperplasia (CAH) is a group of genetic conditions. These conditions affect the adrenal glands. These glands control how the body grows and develops. There are many types of CAH.

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.

Adrenal Glands  
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Risk Factors  

A family history of CAH will increase your child's chance of having the condition. People can carry the gene for CAH and not have the disorder. In this case, both parents must have the CAH gene for the child to have a 25% chance of getting CAH.

Symptoms  

Symptoms can vary with the different types of CAH and the sex of the child. General symptoms include:

  • Altered or unexpected features in newborn girls such as:
    • Unusual appearance of genitalia
    • Parts of the external genitalia may resemble a penis
  • Early signs of puberty in boys as young as two or three years old such as:
    • Becoming very muscular
    • Experiencing penis growth
    • Developing pubic hair
    • Having a deepening voice
  • Excessive facial and/or body hair
  • Fast growth compared to peers of the same age—most children will stop growing sooner than their peers and are often relatively short as adults
  • Difficulty fighting respiratory infections and illnesses
  • High blood pressure
  • Failure to gain weight
  • Severe acne
Diagnosis  

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

Testing may be done during pregnancy if there is a family history of CAH, especially if a sibling has the disease. Small samples of tissue or amniotic fluid may be removed for testing. The samples are taken by one of the following:

In the United States, all newborn children are screened for CAH. The test involves a heelstick to draw some blood. The blood will be examined for hormone levels.

To diagnose CAH in older children or in those that were not screened as newborns, your doctor will ask about your child’s symptoms and medical history. A physical exam will be done. Your doctor may take a small amount of blood and urine to test for hormone levels. This is often enough to make the diagnosis.

If the tests are not clear, your doctor may order genetic testing. This is done with blood tests.

Treatment  

You and your child may be referred to a specialist. Talk with your doctor about the best treatment plan. With treatment, your child can have a normal life. Treatment options include:

Prenatal Treatment  

If CAH is found before birth, dexamethasone may be used. This medication can lower the level of androgens. It may allow normal development of female genitalia. It does not stop CAH from developing.

The medication may be taken as a pill or liquid by the mother.

Medications  

Most children born with CAH need to take hormone replacement medicines. These steroid medications will replace the missing hormones. The exact types of steroid will depend on your child's condition. The medication will also help slow the production of androgens. This will reduce the development of male features in girls.

Certain doses of these medications can have side effects like slowing growth or lowering bone mass. Hormone replacement can also lead obesity and to a condition called Cushings syndrome. Your doctor will monitor your child. Medications will be adjusted as needed.

Cortisol is needed during stressful situations and illness. If you are taking medication to replace cortisol, you may need extra doses during stressful events. This can include surgeries or illnesses. Your doctor will make a medication plan with you.

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

Dietary Changes  

Missing aldosterone can cause a condition called salt wasting. This is a problem maintaining the correct amount of salt in the blood. It can lead to low blood pressure and a high potassium level in the blood. If you have salt wasting, you may need to add table salt to your diet.

Surgery  

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

Prevention  

CAH is an inherited disorder. There are no preventive measures.

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.