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46 XX karyotype during male fertility evaluation; case series and literature review

Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients’ clinic...

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Autores principales: Majzoub, Ahmad, Arafa, Mohamed, Starks, Christopher, Elbardisi, Haitham, Al Said, Sami, Sabanegh, Edmund
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312213/
https://www.ncbi.nlm.nih.gov/pubmed/27297128
http://dx.doi.org/10.4103/1008-682X.181224
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author Majzoub, Ahmad
Arafa, Mohamed
Starks, Christopher
Elbardisi, Haitham
Al Said, Sami
Sabanegh, Edmund
author_facet Majzoub, Ahmad
Arafa, Mohamed
Starks, Christopher
Elbardisi, Haitham
Al Said, Sami
Sabanegh, Edmund
author_sort Majzoub, Ahmad
collection PubMed
description Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients’ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using “46 XX man” as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients’ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.
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spelling pubmed-53122132017-03-01 46 XX karyotype during male fertility evaluation; case series and literature review Majzoub, Ahmad Arafa, Mohamed Starks, Christopher Elbardisi, Haitham Al Said, Sami Sabanegh, Edmund Asian J Androl Original Article Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients’ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using “46 XX man” as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients’ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption. Medknow Publications & Media Pvt Ltd 2017 2016-06-10 /pmc/articles/PMC5312213/ /pubmed/27297128 http://dx.doi.org/10.4103/1008-682X.181224 Text en Copyright: © 2017 Asian Journal of Andrology 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-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Original Article
Majzoub, Ahmad
Arafa, Mohamed
Starks, Christopher
Elbardisi, Haitham
Al Said, Sami
Sabanegh, Edmund
46 XX karyotype during male fertility evaluation; case series and literature review
title 46 XX karyotype during male fertility evaluation; case series and literature review
title_full 46 XX karyotype during male fertility evaluation; case series and literature review
title_fullStr 46 XX karyotype during male fertility evaluation; case series and literature review
title_full_unstemmed 46 XX karyotype during male fertility evaluation; case series and literature review
title_short 46 XX karyotype during male fertility evaluation; case series and literature review
title_sort 46 xx karyotype during male fertility evaluation; case series and literature review
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312213/
https://www.ncbi.nlm.nih.gov/pubmed/27297128
http://dx.doi.org/10.4103/1008-682X.181224
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