Epidemiology

Classical 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is generally a rare disease but the worldwide incidence varies among different populations, ranging from 1 in 282 live births in Yupik Eskimos of Alaska, to 1 in 15,800 in Japan, and 1 in 17,098 in Scotland.[2]

Non-classical 21-hydroxylase-deficient CAH is more common and affects between 1 in 200 and 1 in 2000.[3]

The prevalence is highest among Eastern Mediterranean and Southeast Asian populations.[4]

The incidence of CAH is lower in black infants, compared with white, Hispanic, and Asian infants.[5]

11β-hydroxylase deficiency is a rarer cause of CAH with a prevalence of 5% to 8%, occuring in an estimated 1 in 100,000 live births. The incidence of 11β-hydroxylase deficiency is highest in the Middle East and North Africa.[6]​​

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