Congenital Adrenal Hyperplasia: General Information

The Adrenal glands are located anterior to the kidneys. There are two main sections of the gland; the inner gland or medulla, and the outer gland, or the cortex. The medulla is part of the sympathetic nervous system, and secretes epinephrine and norepinephrine. The cortex functions as an endogenous gland and secretes three main hormones: glucocorticoids, minerocorticoids and sex hormones. Congenital Adrenal Hyperplasia is a genetic disease of the adrenal cortex
A person with congenital adrenal hyperplasia (CAH) doesn't make sufficient quantities of the hormones cortisol (glucocorticoid) and at times, aldosterone (mineralocorticoid). As the production of cortisol is altered, an increase in androgen may also occur (i.e. a sex hormone). This description is what makes this disease different than Addison’s disease, where the adrenal cortex produces little or no hormones, including androgen. Classical congenital adrenal hyperplasia is rare, affecting only one in 14,000 patients, but mild forms of the disease, or Non-Classical CAH may occur in one of every 100 to 1,000 persons.
Diagnosis for the Classical form usually occurs at birth or early in childhood. However, Non-Classical CAH exists on a continuum from mild to severe, and diagnosis may be eluded entirely until adulthood. If missed entirely, this genetic disease has the potential to be passed on to any children that are born inadvertently.