Definition

Congenital adrenal hyperplasia (CAH) is a group of genetic problems that affect the adrenal glands. These glands sit on top of each kidney. 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.

Adrenal Glands Copyright © Nucleus Medical Media, Inc.

Risk Factors

The risk of this problem is higher in children who have other family members with CAH.

Symptoms

Symptoms depend on the gender of the child and the type of CAH the child has. Problems may be:

• 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 2 to 3 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
• 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:

• Chorionic villus sampling
• Amniocentesis

In the US, all newborn children are screened for CAH. This is done using 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 were not 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 done. This is done with blood tests.

Treatment

There is no cure. The goal of treatment is to replace missing hormones and reduce excess androgen. Your child will need to see a doctor who treats hormone problems to do this. Treatment choices are:

• Medicines to:
  • Lower androgen levels—may also be given to the mother during pregnancy
  • Replace cortisol, especially during stressful events and illnesses
• Lifestyle changes, such as eating salty foods to replace missing salt in the body due to low levels of aldosterone
• Surgery to correct unusually formed genitalia

Prevention

There are no known guidelines to prevent this health problem.