Congenital adrenal hyperplasia, also known as CAH, is a set of genetic conditions that affect the function of the adrenal gland.
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.
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Symptoms of CAH
- 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.