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′ clinical pr...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Asian Journal of Andrology |
| Subjects: | |
| Online Access: | http://www.ajandrology.com/article.asp?issn=1008-682X;year=2017;volume=19;issue=2;spage=168;epage=172;aulast=Majzoub |
| _version_ | 1819179664776626176 |
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| author | Ahmad Majzoub Mohamed Arafa Christopher Starks Haitham Elbardisi Sami Al Said Edmund Sabanegh |
| author_facet | Ahmad Majzoub Mohamed Arafa Christopher Starks Haitham Elbardisi Sami Al Said Edmund Sabanegh |
| author_sort | Ahmad Majzoub |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-22T22:02:03Z |
| format | Article |
| id | doaj.art-593d65236e5d4cd8aed9c60de206627f |
| institution | Directory Open Access Journal |
| issn | 1008-682X 1745-7262 |
| language | English |
| last_indexed | 2024-12-22T22:02:03Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Asian Journal of Andrology |
| spelling | doaj.art-593d65236e5d4cd8aed9c60de206627f2022-12-21T18:11:05ZengWolters Kluwer Medknow PublicationsAsian Journal of Andrology1008-682X1745-72622017-01-0119216817210.4103/1008-682X.18122446 XX karyotype during male fertility evaluation; case series and literature reviewAhmad MajzoubMohamed ArafaChristopher StarksHaitham ElbardisiSami Al SaidEdmund SabaneghForty-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.http://www.ajandrology.com/article.asp?issn=1008-682X;year=2017;volume=19;issue=2;spage=168;epage=172;aulast=Majzoubhypogonadism; infertility; male; sex-determining region; XX disorders of sex development |
| spellingShingle | Ahmad Majzoub Mohamed Arafa Christopher Starks Haitham Elbardisi Sami Al Said Edmund Sabanegh 46 XX karyotype during male fertility evaluation; case series and literature review Asian Journal of Andrology hypogonadism; infertility; male; sex-determining region; XX disorders of sex development |
| 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 | hypogonadism; infertility; male; sex-determining region; XX disorders of sex development |
| url | http://www.ajandrology.com/article.asp?issn=1008-682X;year=2017;volume=19;issue=2;spage=168;epage=172;aulast=Majzoub |
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