Definition

Congenital adrenal hyperplasia (CAH) is an inherited disorder that causes the body to have insufficient amounts of certain adrenal hormones. Depending on the severity of the problem, the disorder can be life-threatening; however, most people diagnosed with CAH who receive proper treatment lead normal, healthy lives.

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

Causes

CAH occurs when the adrenal glands, located near the kidneys, do not make enough cortisol and/or aldosterone, both naturally-occurring hormones. Cortisol helps the body respond to stressful situations and infections, whereas 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 realize they carry it because it is a recessive disorder, meaning someone who carries the gene probably doesn’t have any symptoms of the disorder.

If someone in your immediate family has been diagnosed with CAH, talk to your doctor about genetic testing as soon as you are expecting a child.

Symptoms

If your child experiences any of these symptoms 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, the most obvious symptom of CAH is the unusual appearance of genitalia. Parts of the child’s vagina may be enlarged, or resemble a penis.
  • In newborn boys, there are no obvious visual symptoms; however, 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, and have a deepening voice.
  • Both boys and girls may have excessive facial and/or body hair and grow very fast compared to other children their age. However, most will stop growing sooner than their peers and will be relatively short as adults.
  • Boys and girls with CAH may have difficulty fighting respiratory infections and illnesses, and may have high blood pressure .
  • Dehydration, low blood pressure, low sodium level, and high potassium level in the blood are due to a condition known as “salt wasting,” which is caused by an inadequate amount 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 and medical history and may order a blood or urine test to check hormone levels, in particular cortisol and aldosterone. In some cases, your doctor will want to do an amniocentesis . In amniocentesis, you lie on your back while a thin, hollow needle is inserted through your abdomen and into the uterus to collect a sample of the fluid that surrounds the baby in the womb.

If your child has already been born, your doctor will ask about your child’s symptoms and medical history, and perform a physical exam. Your doctor will probably require 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 an endocrinologist or, in some cases, a pediatric urologist.

Treatment

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

Prenatal Treatment

The hormone therapy medication, dexamethasone, is often prescribed when CAH is diagnosed before a child is born early in the first trimester. Dexamethasone is usually taken as a pill or liquid, and your doctor will determine the correct dosage.

Medications for Those Born With CAH

Most children born with CAH need to take cortisol and/or aldosterone replacement medications all of their lives. With constant monitoring, no side effects are expected because the goal of the treatment is to keep the body’s normal balance of hormones.

It is important to know that during stressful situations the dose of cortisol needs to be increased as directed by your physician.

Dietary Treatment

Those with the salt wasting illness usually require additional table salt in their formula. Replacement cortisol can increase appetite, which can lead to becoming overweight. Therefore, caloric intake should be followed closely in these individuals.

Surgery

In most cases, surgery can correct unusually formed genitalia. Typically, such surgery is performed by a pediatric urologist when the child is between 1-3 years of age.

Prevention

Because CAH is an inherited disorder, there are no preventive measures, except in the use of dexamethasone early in the first trimester of pregnancy.