Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) describes a group of genetic disorders affecting your adrenal glands. You have one adrenal gland on top of each kidney. The adrenal glands produce several important hormones your body needs.
Specific genetic mutations cause CAH. These genetic changes happen during a baby’s development in the womb. People living with CAH have all inherited mutated genes from their parents.
Hyponatremia (low blood sodium levels)
Cardiovascular problems, including low blood pressure and arrhythmias (heart rhythm problems)
Low blood glucose (blood sugar)
Metabolic acidosis (too much acid content in the blood)
Additionally, people living with salt-wasting CAH have high levels of androgens, or male sex hormones, in their bodies.
Elevated androgen levels cause other symptoms, including:
Enlarged or ambiguous (abnormal) external genitalia—for example, clitoris enlargement in a female infant
Premature signs of puberty, including voice changes, early pubic, armpit, and facial hair, and severe acne
Abnormal menstrual periods
Noncancerous testicular tumors
In the U.S., doctors screen all newborn babies for 21-hydroxylase deficiency before they leave the hospital. This screening determines whether a child has classic CAH.
In almost all cases, doctors diagnose classic CAH in infants and young children. Diagnosis of nonclassic CAH may not occur until a person begins to show symptoms of the disease.
In some cases, this may not happen until early adulthood.
Some couples at higher risk, including those with family members diagnosed with CAH, may have genetic testing to determine the risk of passing on genetic mutations to their children.
Treatment for congenital adrenal hyperplasia depends on the type of CAH you have and how severe your symptoms are.
There is no cure for CAH, but many people find symptom relief with medications.
Doctors prescribe several types of medications, including salt supplements and steroids, to people living with classic CAH.
Your doctor monitors your condition with regular blood tests to check hormone levels.
If classic CAH causes genital abnormalities, surgery two to six months after birth can correct the appearance of external genitalia.
In some cases, it may be appropriate to delay surgery for several years.
People living with nonclassic CAH who have very mild or no symptoms may not need treatment.
For some, medications like steroids or fertility drugs improve symptoms.