CAH is a genetic defect of the adrenal glands. A person with CAH will not be able to produce several vital hormones known as corticosteriods. CAH is treated with hormone replacement, replacing one or both of the hormones missing, generally with Cortef and Florinef. Living with CAH requires extra attention to common illnesses and stress inducing situations (injury, exercise, etc.) and very good communication with your Endocrinologist. While this site is intended to provide information, support and education for people and families with CAH, your Endocrinologist must always be your primary source for medical information, and should always be consulted regarding any medical questions.

The most common type of CAH results from low production of an enzyme of the adrenal gland called 21-hydroxylase. Mild forms of the disease (called "non-classical") result in symptoms such as severe acne, excess facial and/or body hair, early development of pubic hair, receding scalp hairline, menstrual disturbances in females, and infertility in both males and females. Non-classical CAH occurs in approximately 1 out of 100 people, and as high as 1 in 27 in some ethnic populations. More severe forms of the disorder (called "classical" CAH) can result in ambiguous genitalia in a newborn girl, as well as severe salt and hormonal imbalances in both girls and boys.

Prenatal therapy with a synthetic hormone called dexamethasone throughout pregnancy can allow proper development of the external genitalia in female fetuses. Affected girls are then born with normal external genitalia and do not require corrective surgery. Both classical and non-classical forms are "congenital" which means there is an abnormality in the genes that causes CAH and people are born with it. The classic form initiates while the baby is still forming in the womb and its symptoms are present in the newborn, while the non-classical form is often referred to as "late-onset" CAH because it presents later into infancy, or can even surface in adulthood.

Females with congenital adrenal hyperplasia have a normal female karyotype (46 XX). They are potentially fertile. By replacing cortisone, the overproduction of androgenic hormones can be decreased. In the past, females affected by congenital adrenal hyperplasia often underwent surgical reconstruction to decrease the size of the clitoris and to widen the vaginal introitus. However, it has become evident that some such individuals are, as adults, displeased with the long-term result (decreased clitoral sensitivity, vaginal stenosis, etc.). As a result, many pediatric urologists, endocrinologists and psychiatrists are recommending that any reconstructive surgery for intersex conditions be undertaken only after the affected individual can understand the ramifications of the surgery and give informed consent.