An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype

We present a patient case referred for evaluation of male hypogonadism with gynecomastia. On examination, he was noted to have microtestis, shorter than expected height, and bilateral gynecomastia. Further investigation revealed XX genotype and on fluorescence in situ hybridization analysis confirme...

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Detalles Bibliográficos
Autores principales: Sharma, Tulsi, Mehta, Akshat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578417/
https://www.ncbi.nlm.nih.gov/pubmed/37908278
http://dx.doi.org/10.1210/jcemcr/luac033
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author Sharma, Tulsi
Mehta, Akshat
author_facet Sharma, Tulsi
Mehta, Akshat
author_sort Sharma, Tulsi
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description We present a patient case referred for evaluation of male hypogonadism with gynecomastia. On examination, he was noted to have microtestis, shorter than expected height, and bilateral gynecomastia. Further investigation revealed XX genotype and on fluorescence in situ hybridization analysis confirmed the SRY gene was present on the short arm of 1 X chromosome. This case highlights the importance of detailed history and examination and the indication for genetic counseling in selected cases.
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spelling pubmed-105784172023-10-31 An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype Sharma, Tulsi Mehta, Akshat JCEM Case Rep Case Report We present a patient case referred for evaluation of male hypogonadism with gynecomastia. On examination, he was noted to have microtestis, shorter than expected height, and bilateral gynecomastia. Further investigation revealed XX genotype and on fluorescence in situ hybridization analysis confirmed the SRY gene was present on the short arm of 1 X chromosome. This case highlights the importance of detailed history and examination and the indication for genetic counseling in selected cases. Oxford University Press 2023-01-20 /pmc/articles/PMC10578417/ /pubmed/37908278 http://dx.doi.org/10.1210/jcemcr/luac033 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Sharma, Tulsi
Mehta, Akshat
An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype
title An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype
title_full An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype
title_fullStr An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype
title_full_unstemmed An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype
title_short An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype
title_sort interesting case of hypogonadism: workup in a phenotypic male reveals xx genotype
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578417/
https://www.ncbi.nlm.nih.gov/pubmed/37908278
http://dx.doi.org/10.1210/jcemcr/luac033
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