17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics: Difference between revisions

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{{17-beta-hydroxysteroid dehydrogenase deficiency}}
{{17-beta-hydroxysteroid dehydrogenase deficiency}}
{{CMG}}; {{AE}} {Abdulkerim}}
{{CMG}}; {{AE}} {{Abdulkerim}}
==Overview==
==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.
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.

Latest revision as of 07:45, 20 October 2022

17-beta-hydroxysteroid dehydrogenase deficiency Microchapters

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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

References

  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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