Epidemiology

Screening studies indicate a worldwide incidence of classical 21-hydroxylase-deficient CAH as 1 in 13,000 to 1 in 54,000 live births.[2] National Newborn Screening Information System (NNSIS) external link opens in a new window Incidences vary among different populations, ranging from 1 in 600 live births in Yupik Eskimos of Alaska, to 1 in 5000 live births in Saudi Arabia, to 1 in 23,000 live births in New Zealand. The prevalence frequency of non-classical 21-hydroxylase-deficient CAH is considerably higher, at 1 in 1000, in white populations, with an even higher frequency among selected ethnic groups - most notably, Ashkenazi Jews.[3][4] Prevalence of non-classical CAH is 1 in 27 Ashkenazi Jews, 1 in 40 Hispanics, 1 in 50 Yugoslavs, 1 in 300 Italians, and 1 in 100 in a heterogeneous New York population.[3][4] Additionally, there is a high frequency of CAH due to 21-hydroxylase deficiency among Yupik Eskimos of southwestern Alaska (1 in 282).[5] The fertility rate among untreated females with non-classical CAH is reported to be 50%.[6]

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