All males do not have 46 xy karyotype: A rare case report

The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX). A 26-year-old male presented with bilateral gynecomastia, poor development of se...

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Autores principales: Agrawala, Ritesh Kumar, Choudhury, Arun Kumar, Mohanty, Binoy Kumar, Baliarsinha, Anoj Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830330/
https://www.ncbi.nlm.nih.gov/pubmed/24251184
http://dx.doi.org/10.4103/2230-8210.119603
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author Agrawala, Ritesh Kumar
Choudhury, Arun Kumar
Mohanty, Binoy Kumar
Baliarsinha, Anoj Kumar
author_facet Agrawala, Ritesh Kumar
Choudhury, Arun Kumar
Mohanty, Binoy Kumar
Baliarsinha, Anoj Kumar
author_sort Agrawala, Ritesh Kumar
collection PubMed
description The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX). A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH) showed sex determining region of Y chromosome (SRY) gene locus on X chromosome.
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spelling pubmed-38303302013-11-18 All males do not have 46 xy karyotype: A rare case report Agrawala, Ritesh Kumar Choudhury, Arun Kumar Mohanty, Binoy Kumar Baliarsinha, Anoj Kumar Indian J Endocrinol Metab Brief Communication The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX). A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH) showed sex determining region of Y chromosome (SRY) gene locus on X chromosome. Medknow Publications & Media Pvt Ltd 2013-10 /pmc/articles/PMC3830330/ /pubmed/24251184 http://dx.doi.org/10.4103/2230-8210.119603 Text en Copyright: © Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communication
Agrawala, Ritesh Kumar
Choudhury, Arun Kumar
Mohanty, Binoy Kumar
Baliarsinha, Anoj Kumar
All males do not have 46 xy karyotype: A rare case report
title All males do not have 46 xy karyotype: A rare case report
title_full All males do not have 46 xy karyotype: A rare case report
title_fullStr All males do not have 46 xy karyotype: A rare case report
title_full_unstemmed All males do not have 46 xy karyotype: A rare case report
title_short All males do not have 46 xy karyotype: A rare case report
title_sort all males do not have 46 xy karyotype: a rare case report
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830330/
https://www.ncbi.nlm.nih.gov/pubmed/24251184
http://dx.doi.org/10.4103/2230-8210.119603
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