21-hydroxylase deficiency epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]

Overview

The incidence of congenital adrenal hyperplasia due to 21-hydroxlase deficiency is approximately 7.1 per 100,000 births. The prevalence of congenital adrenal hyperplasia due to 21-hydroxylate deficiency ranges between 6.6 to 7.6 per 100,000 individuals. Ashkenazi Jews, Mediterranean individuals (e.g. Greek/Italians) may have higher prevalence than other population, the prevalence will be as high as 1:3 individuals.

Epidemiology and Demographics

Incidence

The incidence of congenital adrenal hyperplasia due to 21-hydroxlase deficiency detectable in childhood is approximately 7.1 in 100,000 births. The severe salt-wasting form accounts for the majority of these cases, which is high enough that many states and countries routinely include it in mandated newborn screening tests. The incidence of simple virilizing congenital adrenal hyperplasia is about 1 in 60,000 children.

Prevalence

The prevalence of congenital adrenal hyperplasia due to 21-hydroxylate deficiency ranges between 6.6 to 7.6 per 100,000 individuals.

Race

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean race.