Cargando…
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...
Autores principales: | , , , , , |
---|---|
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 |
_version_ | 1782508162360803328 |
---|---|
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. |
format | Online Article Text |
id | pubmed-5312213 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT majzoubahmad 46xxkaryotypeduringmalefertilityevaluationcaseseriesandliteraturereview AT arafamohamed 46xxkaryotypeduringmalefertilityevaluationcaseseriesandliteraturereview AT starkschristopher 46xxkaryotypeduringmalefertilityevaluationcaseseriesandliteraturereview AT elbardisihaitham 46xxkaryotypeduringmalefertilityevaluationcaseseriesandliteraturereview AT alsaidsami 46xxkaryotypeduringmalefertilityevaluationcaseseriesandliteraturereview AT sabaneghedmund 46xxkaryotypeduringmalefertilityevaluationcaseseriesandliteraturereview |