A child with CAH is missing an enzyme that the adrenal gland uses to produce certain hormones. Without these hormones, the patient has no means to regulate their metabolism, immune system, blood pressure and other vital functions.

There are several forms of CAH. most are detected at birth, while the others may take some time to diagnose.

When CAH occurs, it will affect at least one of three steroid hormones produced by the body. These include cortisol, mineralocorticoids, and androgens. These hormones control how the child handles illnesses and stress response, sodium and potassium levels, and testosterone levels. The cause of congenital adrenal hyperplasia is hereditary. It is passed from parent to child in a manner called autosomal recessive. The parents of children with CAH either both have CAH themselves or they both carry the genetic anomaly that causes the condition. In the majority of cases, the missing enzyme in CAH sufferers is 21-hydroxylase.

The symptoms of CAH vary and are dependent on the gene that is defective and how low enzyme levels are. There are distinct types of congenital adrenal hyperplasia. Classic CAH is the more severe types and is typically identified during infancy. Non-classic NAH is more common, and the effects are milder. Detection usually occurs during late childhood into early adulthood. Children who have inherited Classic CAH may experience:

• Reduced production of both cortisol and aldosterone
• Overproduction of male sex hormones (which can lead to abnormal genitalia in females)
• Adrenal crisis during infancy
• Early onset of hair growth in the pubic area

With nonclassic CAH, symptoms at birth are rare. The only hormone that experiences low production is cortisol. When girls reach puberty, they may experience infrequent or no menstruation cycle at all. This can be coupled with traits such as increased body hair and a deeper voice. Severe acne may also appear. Like children who suffer from classic CAH, earlier growth of hair in the pubic area can occur.

It is now mandated in all fifty states that testing for CAH is part of the newborn screen prior to discharge from the hospital.

Management of CAH is necessary to avoid potential complications such as adrenal crisis and severe electrolyte imbalances. Low levels of cortisol can result in diarrhea, low blood sugar, vomiting, dehydration, and shock. Dehydration may also occur due to reduced production of sodium and potassium. This is a side effect of improper aldosterone production. Treatment at UCI Pediatric Urology for CAH involves managing the symptoms. Treatments can include medications (steroid, hormones)  and possible genital reconstructive surgery for females.