2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report

BACKGROUND: CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity, leading to development of congenital adrenal hyperplasia (CAH) with different clinical phenotypes. For families with CAH children, genetic testing of the parents and genetic counseling are recommended to a...

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Autores principales: Xi, Na, Song, Xiao, Wang, Xue-Yan, Qin, Sheng-Fang, He, Guan-Nan, Sun, Ling-Ling, Chen, Xi-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362542/
https://www.ncbi.nlm.nih.gov/pubmed/34447826
http://dx.doi.org/10.12998/wjcc.v9.i23.6789
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author Xi, Na
Song, Xiao
Wang, Xue-Yan
Qin, Sheng-Fang
He, Guan-Nan
Sun, Ling-Ling
Chen, Xi-Min
author_facet Xi, Na
Song, Xiao
Wang, Xue-Yan
Qin, Sheng-Fang
He, Guan-Nan
Sun, Ling-Ling
Chen, Xi-Min
author_sort Xi, Na
collection PubMed
description BACKGROUND: CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity, leading to development of congenital adrenal hyperplasia (CAH) with different clinical phenotypes. For families with CAH children, genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence. CASE SUMMARY: We report a case of CAH with a high suspicion before delivery. The risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing results. Our report confirmed a CYP21A2 homozygous deletion in this case, CYP21A2 heterozygous deletion in the mother, and a rare 2+0 CYP21A2 deletion in the father. CONCLUSION: It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH.
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spelling pubmed-83625422021-08-25 2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report Xi, Na Song, Xiao Wang, Xue-Yan Qin, Sheng-Fang He, Guan-Nan Sun, Ling-Ling Chen, Xi-Min World J Clin Cases Case Report BACKGROUND: CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity, leading to development of congenital adrenal hyperplasia (CAH) with different clinical phenotypes. For families with CAH children, genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence. CASE SUMMARY: We report a case of CAH with a high suspicion before delivery. The risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing results. Our report confirmed a CYP21A2 homozygous deletion in this case, CYP21A2 heterozygous deletion in the mother, and a rare 2+0 CYP21A2 deletion in the father. CONCLUSION: It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH. Baishideng Publishing Group Inc 2021-08-16 2021-08-16 /pmc/articles/PMC8362542/ /pubmed/34447826 http://dx.doi.org/10.12998/wjcc.v9.i23.6789 Text en ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
spellingShingle Case Report
Xi, Na
Song, Xiao
Wang, Xue-Yan
Qin, Sheng-Fang
He, Guan-Nan
Sun, Ling-Ling
Chen, Xi-Min
2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
title 2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
title_full 2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
title_fullStr 2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
title_full_unstemmed 2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
title_short 2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
title_sort 2+0 cyp21a2 deletion carrier — a limitation of the genetic testing and counseling: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362542/
https://www.ncbi.nlm.nih.gov/pubmed/34447826
http://dx.doi.org/10.12998/wjcc.v9.i23.6789
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