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SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature
BACKGROUND: 45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner’s syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-app...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760426/ https://www.ncbi.nlm.nih.gov/pubmed/33392321 http://dx.doi.org/10.12998/wjcc.v8.i24.6380 |
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author | Wu, Yan-Hua Sun, Ke-Na Bao, Hui Chen, Ying-Jian |
author_facet | Wu, Yan-Hua Sun, Ke-Na Bao, Hui Chen, Ying-Jian |
author_sort | Wu, Yan-Hua |
collection | PubMed |
description | BACKGROUND: 45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner’s syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-appearing male phenotype are not found until a chromosome test is performed to investigate the cause of male infertility. CASE SUMMARY: In this study, a 29-year-old male patient with complete azoospermia is reported. Chromosomal analyses of his lymphocytes revealed the karyotype 45,X[93%]/46,X,+mar(Y)[7%]. In addition, Y chromosome-specific markers, such as SRY, ZFY, AZFa, AZFb and AZFc, were not observed in his blood DNA according to multiplex polymerase chain reaction test. A literature review identified several 45,X/46,XY cases with a normal-appearing male phenotype, most of whom were diagnosed during infertility investigation. However, the present case is the first SRY-negative 45,X/46,XY male case diagnosed during a premarital medical examination. CONCLUSION: This finding further suggests that sex determination is a complex process regulated by multiple genetic and environmental factors. |
format | Online Article Text |
id | pubmed-7760426 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-77604262021-01-01 SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature Wu, Yan-Hua Sun, Ke-Na Bao, Hui Chen, Ying-Jian World J Clin Cases Case Report BACKGROUND: 45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner’s syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-appearing male phenotype are not found until a chromosome test is performed to investigate the cause of male infertility. CASE SUMMARY: In this study, a 29-year-old male patient with complete azoospermia is reported. Chromosomal analyses of his lymphocytes revealed the karyotype 45,X[93%]/46,X,+mar(Y)[7%]. In addition, Y chromosome-specific markers, such as SRY, ZFY, AZFa, AZFb and AZFc, were not observed in his blood DNA according to multiplex polymerase chain reaction test. A literature review identified several 45,X/46,XY cases with a normal-appearing male phenotype, most of whom were diagnosed during infertility investigation. However, the present case is the first SRY-negative 45,X/46,XY male case diagnosed during a premarital medical examination. CONCLUSION: This finding further suggests that sex determination is a complex process regulated by multiple genetic and environmental factors. Baishideng Publishing Group Inc 2020-12-26 2020-12-26 /pmc/articles/PMC7760426/ /pubmed/33392321 http://dx.doi.org/10.12998/wjcc.v8.i24.6380 Text en ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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. |
spellingShingle | Case Report Wu, Yan-Hua Sun, Ke-Na Bao, Hui Chen, Ying-Jian SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature |
title |
SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature |
title_full |
SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature |
title_fullStr |
SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature |
title_full_unstemmed |
SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature |
title_short |
SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature |
title_sort | sry-negative 45,x/46,xy adult male with complete masculinization and infertility: a case report and review of literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760426/ https://www.ncbi.nlm.nih.gov/pubmed/33392321 http://dx.doi.org/10.12998/wjcc.v8.i24.6380 |
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