Congenital Adrenal Hyperplasia (CAH)

Congenital Adrenal Hyperplasia is a group of inherited genetic disorders that affect your adrenal glands. These small glands sit on top of your kidneys and produce vital hormones. CAH occurs when your body lacks an enzyme needed to make cortisol and sometimes aldosterone.

The most common form of CAH involves a shortage of the enzyme 21-hydroxylase. This shortage causes your adrenal glands to produce too much androgen, a type of male sex hormone. Everyone produces androgens, but too much can cause problems with growth and development.

CAH exists on a spectrum from severe forms detected at birth to milder forms that may not show up until adolescence or adulthood. The milder version is called nonclassic CAH. Both forms require monitoring and often treatment to keep hormone levels balanced.

Symptoms of CAH depend on which form you have and how severe it is. People with classic CAH often show signs at birth or in early childhood. Those with nonclassic CAH may not notice symptoms until later.

• Early puberty or rapid growth in childhood
• Irregular or absent menstrual periods in women
• Excess facial or body hair in women
• Severe acne that does not respond to typical treatments
• Male pattern baldness in women
• Infertility or difficulty getting pregnant
• Fatigue and low energy levels
• Low blood pressure or salt cravings
• Darkening of the skin
• Ambiguous genitalia in newborn females

Some people with mild nonclassic CAH have no symptoms at all. Others may only notice issues when they try to have children or during times of physical stress.

CAH is caused by genetic mutations that you inherit from your parents. Most forms follow an autosomal recessive pattern. This means you need to inherit one changed gene from each parent to develop the condition. About 95 percent of CAH cases result from mutations in the gene that makes 21-hydroxylase enzyme.

You cannot prevent CAH because it is present from birth. However, certain ethnic groups have higher carrier rates. People of Ashkenazi Jewish, Hispanic, Mediterranean, and Slavic descent face increased risk. If both parents carry the gene mutation, each child has a 25 percent chance of having CAH. Genetic counseling can help families understand their risk before having children.

Doctors diagnose CAH through blood tests that measure hormone levels. These tests check cortisol, DHEA, DHEA-Sulfate, and total testosterone. In CAH, you often see low cortisol paired with elevated androgen levels like DHEA-S and testosterone. The pattern of hormone imbalance helps doctors identify which enzyme is missing.

Rite Aid offers blood testing that includes these key hormones in our flagship panel. You can get tested at over 2,000 Quest Diagnostics locations nationwide. Early detection helps you manage symptoms and prevent complications. Some doctors also use an ACTH stimulation test to confirm the diagnosis and determine severity.

Treatment for CAH focuses on replacing missing hormones and reducing excess androgens. Your care plan depends on which form you have and how it affects your body.

• Corticosteroid medications to replace missing cortisol and suppress androgen production
• Mineralocorticoid medications if your body does not make enough aldosterone
• Salt supplements for people with salt-wasting forms of CAH
• Regular blood tests to monitor hormone levels and adjust medications
• Stress dosing during illness, injury, or surgery to prevent adrenal crisis
• Anti-androgen medications or birth control pills for women with excess hair growth or acne
• Working with an endocrinologist who specializes in hormone disorders
• Medical alert jewelry to inform emergency responders of your condition
• Genetic counseling for family planning decisions

With proper treatment, most people with CAH live healthy lives. Regular monitoring helps catch problems early and keeps hormones balanced.