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Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians
PURPOSE: Nonclassic 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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675788/ https://www.ncbi.nlm.nih.gov/pubmed/28541281 http://dx.doi.org/10.1038/gim.2017.46 |
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author | Hannah-Shmouni, Fady Morissette, Rachel Sinaii, Ninet Elman, Meredith Prezant, Toni R Chen, Wuyan Pulver, Ann Merke, Deborah P |
author_facet | Hannah-Shmouni, Fady Morissette, Rachel Sinaii, Ninet Elman, Meredith Prezant, Toni R Chen, Wuyan Pulver, Ann Merke, Deborah P |
author_sort | Hannah-Shmouni, Fady |
collection | PubMed |
description | PURPOSE: Nonclassic 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 genetic studies have not been done to confirm these remarkable rates. METHODS: CYP21A2 genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis. RESULTS: Nonclassic CAH carriership was found similarly in 15% (95% confidence interval (CI): 10.4–20.7) of Ashkenazi Jews and 9.5% (95% CI: 5.8–14.4) of Caucasians (P=0.13). The proportion of Ashkenazi Jewish nonclassic CAH carriers (0.15 versus 0.309, P<0.0001) and disease affected (0.005 versus 0.037, P=0.009) was not as high as previously reported. The estimated prevalence of nonclassic CAH in Caucasians was 1 in 200 (0.5%, 95% CI: 0.01–2.8). CONCLUSION: Nonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling. |
format | Online Article Text |
id | pubmed-5675788 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-56757882017-11-25 Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians Hannah-Shmouni, Fady Morissette, Rachel Sinaii, Ninet Elman, Meredith Prezant, Toni R Chen, Wuyan Pulver, Ann Merke, Deborah P Genet Med Brief Report PURPOSE: Nonclassic 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 genetic studies have not been done to confirm these remarkable rates. METHODS: CYP21A2 genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis. RESULTS: Nonclassic CAH carriership was found similarly in 15% (95% confidence interval (CI): 10.4–20.7) of Ashkenazi Jews and 9.5% (95% CI: 5.8–14.4) of Caucasians (P=0.13). The proportion of Ashkenazi Jewish nonclassic CAH carriers (0.15 versus 0.309, P<0.0001) and disease affected (0.005 versus 0.037, P=0.009) was not as high as previously reported. The estimated prevalence of nonclassic CAH in Caucasians was 1 in 200 (0.5%, 95% CI: 0.01–2.8). CONCLUSION: Nonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling. Nature Publishing Group 2017-11 2017-05-25 /pmc/articles/PMC5675788/ /pubmed/28541281 http://dx.doi.org/10.1038/gim.2017.46 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
spellingShingle | Brief Report Hannah-Shmouni, Fady Morissette, Rachel Sinaii, Ninet Elman, Meredith Prezant, Toni R Chen, Wuyan Pulver, Ann Merke, Deborah P Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians |
title | Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians |
title_full | Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians |
title_fullStr | Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians |
title_full_unstemmed | Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians |
title_short | Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians |
title_sort | revisiting the prevalence of nonclassic congenital adrenal hyperplasia in us ashkenazi jews and caucasians |
topic | Brief Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675788/ https://www.ncbi.nlm.nih.gov/pubmed/28541281 http://dx.doi.org/10.1038/gim.2017.46 |
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