17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S [2]

Overview

Although the precise incidence of 17βHSD-3 deficiency is unknown, a recent study from the Netherlands estimated the incidence around 1 in 147,000 newborns, with a calculated heterozygote frequency of 1 in 135.

Epidemiology and Demographics

In the Netherlands, 17-beta-hydroxysteroid dehydrogenase deficiency is estimated to occur 1:147.000 newborns.
17βHSD3 deficiency may show increased frequencies among populations with a high intermarriage rate such as in Gaza, among whom intermarriage is frequent, the incidence is 1 in 200 to 300 people.
The incidence of 17betaHSD3 deficiency is 0.65 times the incidence of AIS, which is thought to be the most frequent known cause of male pseudohermaphroditism without dysgenic gonads.^[1]

References

↑ Boehmer A; et al. (1999). “17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations”. J Clin Endocrinol Metab. 84 (12): 4713–21. PMID 10599740.

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[1] Boehmer A; et al. (1999). “17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations”. J Clin Endocrinol Metab. 84 (12): 4713–21. PMID 10599740.

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