Congenital Adrenal Hyperplasia (CAH)

What is congenital adrenal hyperplasia (CAH)?

Congenital adrenal hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands, which are walnut-sized organs above the kidneys that help regulate metabolism, the immune system, blood pressure, and other essential functions. Someone with CAF lacks an enzyme that the adrenal glands use to do these vital jobs, in turn affecting the production of steroid hormones, such as cortisol, testosterone, etc.

What causes congenital adrenal hyperplasia (CAH)?

In 95% of cases, CAH is caused by a lack of the enzyme 21-hydroxylase, but there are also other much rarer enzyme deficiencies that can cause the disease.

CAH is inherited in an autosomal recessive pattern.

What are the symptoms of congenital adrenal hyperplasia (CAH)?

There are two types of CAH: classic CAH and nonclassic CAH. Nonclassic CAH is more mild and common and may not even become evident until childhood or early adulthood. Its symptoms include:

Irregular or absent menstrual periods in girls
Severe acne
Early appearance of public hair
Rapid growth during childhood, but shorter than average final height

Classic CAH, on the other hand, is more severe and usually detected in infancy. Its symptoms include:

Lack of cortisol, leading to blood pressure and blood sugar problems, some of which are life-threatening
Excess male sex hormone, leading to short height, early puberty, abnormal genital development

How is congenital adrenal hyperplasia (CAH) diagnosed?

CAH can be diagnosed prenatally by an amniocentesis test or a chorionic villus sampling test, in which either fluid from the womb or cells from the placenta, respectively, are removed and examined.

After birth, all newborns in the United States are screened for classic CAH. Otherwise, a CAH diagnosis includes the following:

Physical examination
Blood and urine tests to measure hormone levels
Gene testing
Testing to determine a child’s sex in females with severe ambiguous genitalia

What treatment options are available for congenital adrenal hyperplasia (CAH)?

Although there is currently no cure for CAH, proper treatment and monitoring can allow patients to lead somewhat normal lives. Some treatment options for CAH include:

Medications to replace deficient hormones, such as corticosteroids to replace cortisol and salt supplements to help retain salt
Reconstructive surgery for females

Where can I find more information on congenital adrenal hyperplasia (CAH)?