49, XXXXY syndrome: An infant presenting with ambiguous genitalia
Presences of normal genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. Several genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on the development process of normal male genital...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Indian Journal of Health Sciences and Biomedical Research KLEU |
| Subjects: | |
| Online Access: | http://www.ijournalhs.org/article.asp?issn=2542-6214;year=2016;volume=9;issue=3;spage=342;epage=344;aulast=Nerli |
| _version_ | 1811197200231825408 |
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| author | Rajendra B Nerli Prasad V Magdum Amit M Mungarwadi Shridhar C Ghagane Murigendra B Hiremath |
| author_facet | Rajendra B Nerli Prasad V Magdum Amit M Mungarwadi Shridhar C Ghagane Murigendra B Hiremath |
| author_sort | Rajendra B Nerli |
| collection | DOAJ |
| description | Presences of normal genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. Several genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on the development process of normal male genital system. The addition of X chromosomes to the 46, XY karyotype results in seminiferous tubules dysgenesis, hypogonadism, and malformed genitalia. We report an infant male with 49, XXXXY syndrome presenting with ambiguous genitalia and multiple extra-gonadal anomalies. |
| first_indexed | 2024-04-12T01:11:32Z |
| format | Article |
| id | doaj.art-dae2966998e047268951ce43e53e37aa |
| institution | Directory Open Access Journal |
| issn | 2542-6214 2542-6222 |
| language | English |
| last_indexed | 2024-04-12T01:11:32Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Health Sciences and Biomedical Research KLEU |
| spelling | doaj.art-dae2966998e047268951ce43e53e37aa2022-12-22T03:54:06ZengWolters Kluwer Medknow PublicationsIndian Journal of Health Sciences and Biomedical Research KLEU2542-62142542-62222016-01-019334234410.4103/2349-5006.19634149, XXXXY syndrome: An infant presenting with ambiguous genitaliaRajendra B NerliPrasad V MagdumAmit M MungarwadiShridhar C GhaganeMurigendra B HiremathPresences of normal genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. Several genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on the development process of normal male genital system. The addition of X chromosomes to the 46, XY karyotype results in seminiferous tubules dysgenesis, hypogonadism, and malformed genitalia. We report an infant male with 49, XXXXY syndrome presenting with ambiguous genitalia and multiple extra-gonadal anomalies.http://www.ijournalhs.org/article.asp?issn=2542-6214;year=2016;volume=9;issue=3;spage=342;epage=344;aulast=Nerli49 XXXXY syndromeambiguous genitaliaintrauterine growth restrictionsex chromosome aneuploidy |
| spellingShingle | Rajendra B Nerli Prasad V Magdum Amit M Mungarwadi Shridhar C Ghagane Murigendra B Hiremath 49, XXXXY syndrome: An infant presenting with ambiguous genitalia Indian Journal of Health Sciences and Biomedical Research KLEU 49 XXXXY syndrome ambiguous genitalia intrauterine growth restriction sex chromosome aneuploidy |
| title | 49, XXXXY syndrome: An infant presenting with ambiguous genitalia |
| title_full | 49, XXXXY syndrome: An infant presenting with ambiguous genitalia |
| title_fullStr | 49, XXXXY syndrome: An infant presenting with ambiguous genitalia |
| title_full_unstemmed | 49, XXXXY syndrome: An infant presenting with ambiguous genitalia |
| title_short | 49, XXXXY syndrome: An infant presenting with ambiguous genitalia |
| title_sort | 49 xxxxy syndrome an infant presenting with ambiguous genitalia |
| topic | 49 XXXXY syndrome ambiguous genitalia intrauterine growth restriction sex chromosome aneuploidy |
| url | http://www.ijournalhs.org/article.asp?issn=2542-6214;year=2016;volume=9;issue=3;spage=342;epage=344;aulast=Nerli |
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