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Article

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2017

Hannah-Shmouni Fady, Morissette Rachel, Sinaii Ninet, Elman Meredith, Prezant Toni R, Chen Wuyan, Pulver Ann, Merke Deborah P

Abstract excerpt

PurposeNonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 28541281
DOI: 10.1038/gim.2017.46
PMCID: PMC5675788

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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