17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics: Difference between revisions
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
*In the Netherlands, [[17-beta-hydroxysteroid dehydrogenase deficiency]] is estimated to occur 1:147.000 newborns. | *In the Netherlands, [[17-beta-hydroxysteroid dehydrogenase deficiency]] is estimated to occur 1:147.000 newborns. | ||
*It is more common in Gaza populations where it affects 1 in 200 to 300 people.<ref>{{cite journal |author=Boehmer A et al |title=17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations |journal=J Clin Endocrinol Metab |volume=84 |issue=12 |pages=4713-21 |year=1999 |pmid=10599740}}</ref> | *It is more common in Gaza populations where it affects 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]].<ref>{{cite journal |author=Boehmer A et al |title=17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations |journal=J Clin Endocrinol Metab |volume=84 |issue=12 |pages=4713-21 |year=1999 |pmid=10599740}}</ref> | |||
==References== | ==References== | ||
Revision as of 16:50, 18 May 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: {Abdulkerim}}
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.
- It is more common in Gaza populations where it affects 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]