Definition

Congenital adrenal hyperplasia (CAH) causes the body to have low levels of certain hormones. The disorder can be life-threatening. With proper treatment people with CAH can lead normal, healthy lives.

If you suspect your child may have CAH, talk to your child's doctor about treatment options. If you are pregnant and suspect your child may be affected by CAH, ask your doctor about testing. Prenatal treatment may also be available. This can correct problems before the child is born.

Causes

The adrenal glands sit on top of the kidneys. They produce vital hormones. In CAH, the glands can not produce enough of one or both of the following hormones:

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

Adrenal Glands

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Risk Factors

CAH is an inherited disorder. Most people who carry the gene for CAH do not have the disorder.

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.

Symptoms

If your child has any of these do not assume it is due to CAH. These symptoms may be caused by other, less serious health conditions, or by a reaction to medication. If your child experiences any one of them, see the doctor.

In newborn girls:

• Unusual appearance of genitalia (most obvious symptom)
• Parts of the vagina may be enlarged; it may resemble a penis

In newborn boys, there are no obvious visual symptoms. Boys as young as two or three years old may begin to show signs of puberty. They may:

• Become very muscular
• Experience penis growth
• Develop pubic hair
• Have a deepening voice

Both boys and girls may:

• Have excessive facial and/or body hair
• Grow very fast compared to other children their age.
  • Most will stop growing sooner than their peers and are often relatively short as adults
• Have difficulty fighting respiratory infections and illnesses
• Have high blood pressure]]>
• Develop dehydration, low blood pressure, low sodium level, and high potassium level in the blood—due to a condition known as “salt wasting,” caused by lack of aldosterone
• High blood pressure with low blood potassium
• Poor feeding and vomiting
• Failure to gain weight
• Short stature
• Severe acne

Diagnosis

If you are pregnant, your doctor will ask about your pregnancy. The doctor will also ask about your medical history. The following tests may be done:

• Blood or urine tests—to check hormone levels, in particular cortisol and aldosterone
• Amniocentesis]]> —a sample of the fluid that surrounds the baby in the womb is collected and examined

If your child has already been born, 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.

In borderline cases, genetic testing is done with blood tests. You and your child may also be referred to a specialist. Endocrinologist focus on hormones. A pediatric urologist focuses on the urinary system in children.

Treatment

Talk with your doctor about the best plan for you and/or your child. Treatment options include:

Prevention

CAH is an inherited disorder. There are no preventive measures, except in the use of dexamethasone.