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 prevalence of congenital adrenal hyperplasia due to 21-hydroxylate deficiency ranges between 6.6 to 7.6 per 100,000 individuals. The incidence of congenital adrenal hyperplasia due to 21-hydroxlase deficiency is approximately 7.1 per 100,000 births. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean race, and the Ashkenazi Jews to Mediterranean race ratio is approximately 1 to 3.

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.
• The Ashkenazi Jews to Mediterranean race ratio is approximately 1 to 3.