Congenital Adrenal Hyperplasia

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. Other adrenal hormones may affect how the body handles salt and water.

    Adrenal Glands
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  • 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.

  • 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:

    • Chorionic villus sampling
    • Amniocentesis

    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, you will be asked 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, genetic tests may be ordered. This is done with blood tests.

  • 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.

  • 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

    • Dehydration
    • Loss of appetite
    • Weight loss
    • Severe acne
    • Weakness
    • Fatigue
    • Fever
    • Nausea and vomiting
    • Abdominal pain
    • Diarrhea
    • Bluish skin color
    • Confusion

  • 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: