21-hydroxylase deficiency epidemiology and demographics

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters
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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 21-hydroxlase deficient congenital adrenal hyperplasia is approximately 1 per 15,000 births.

Epidemiology and Demographics

Incidence

The incidence of 21-hydroxylase deficient congenital adrenal hyperplasia detectable in childhood is approximately 1 in 15,000 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-hydroxylase deficiency is approximately 1 per 100 individuals.