Congenital Adrenal Hyperplasia: A Rare Genetic Adrenal Disease

Causes of CAH

Congenital adrenal hyperplasia (CAH) is a rare genetic disease that affects the adrenal glands. The adrenal glands are small, triangular-shaped glands located on top of the kidneys. They produce hormones that regulate blood pressure, blood sugar, and immune function.

In CAH, a defect in one of the genes that codes for an enzyme involved in the production of cortisol and aldosterone occurs. Cortisol is a hormone that helps the body respond to stress, while aldosterone helps the body regulate blood pressure.

There are several different types of CAH, depending on which enzyme is affected. The most common type is 21-hydroxylase deficiency, which accounts for about 95% of cases.

Symptoms of CAH

The symptoms of CAH vary depending on the severity of the enzyme deficiency. In mild cases, there may be no symptoms at all. In more severe cases, symptoms can include:

• Fatigue
• Weight loss
• Muscle weakness
• Nausea and vomiting
• Dehydration
• Electrolyte imbalance

In infants, CAH can cause ambiguous genitalia. This means that the external genitalia may not be clearly male or female.

Treatment for CAH

Treatment for CAH involves replacing the hormones that the adrenal glands are not producing. This can be done with oral medication or injections.

Treatment for CAH is lifelong. However, with proper treatment, people with CAH can live full and healthy lives.