Congenital Adrenal Hyperplasia Panel

Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The most frequent form of classical CAH is 21-hydroxylase deficiency (21-OHD), which can further be divided into simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (≥75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for lifethreatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth. In 90-95% of cases, CAH is caused by a mutation in the CYP21A2 gene. Mutations in the CYP11B1 gene is the second most common cause of CAH. The estimated prevalence of classic CAH is 1:10,000 and annual incidence ranges from 1:5,000 to 1:15,000. The prevalence of non-classic 21OHD CAH in the general heterogeneous population of New York City was estimated as high as 1:100. The highest ethnicspecific non-classic disease prevalence (1:27) is found among Ashkenazi Jews. Other ethnic groups exhibiting high non-classic disease prevalence are: Hispanics (1:40), Slavs (1:50) and Italians (1:300).