A Case with late onset of ambiguous genitalia

A Case with late onset of ambiguous genitalia

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Background: Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. Case: In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband...

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Main Authors: Soraya Saleh Gargari, Faezeh Azizi, Nasrin Saleh, Mir Davood Omrani
Format: Article
Language:English
Published: Shahid Sadoughi University of Medical Sciences 2017-08-01
Series:International Journal of Reproductive BioMedicine
Online Access:http://www.ssu.ac.ir/ijrm/index.php/ijrm/article/view/2490
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spelling doaj-ab55e9e00d8b4913a6e140a5222720662020-11-25T01:28:26ZengShahid Sadoughi University of Medical SciencesInternational Journal of Reproductive BioMedicine2476-41082476-37722017-08-01153175178A Case with late onset of ambiguous genitaliaSoraya Saleh Gargari0Faezeh Azizi1Nasrin Saleh2Mir Davood Omrani3Feto-Maternal Unit, Mahdieh Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran.Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranICU Unit, Shaheed Rajaei Cardiovascular Medical and Research Center, Tehran, IranDepartment of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranBackground: Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. Case: In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions. No mutations were found in these genes either. Conclusion: It seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients.http://www.ssu.ac.ir/ijrm/index.php/ijrm/article/view/2490
collection DOAJ
language English
format Article
sources DOAJ
author Soraya Saleh Gargari
Faezeh Azizi
Nasrin Saleh
Mir Davood Omrani
spellingShingle Soraya Saleh Gargari
Faezeh Azizi
Nasrin Saleh
Mir Davood Omrani
A Case with late onset of ambiguous genitalia
International Journal of Reproductive BioMedicine
author_facet Soraya Saleh Gargari
Faezeh Azizi
Nasrin Saleh
Mir Davood Omrani
author_sort Soraya Saleh Gargari
title A Case with late onset of ambiguous genitalia
title_short A Case with late onset of ambiguous genitalia
title_full A Case with late onset of ambiguous genitalia
title_fullStr A Case with late onset of ambiguous genitalia
title_full_unstemmed A Case with late onset of ambiguous genitalia
title_sort case with late onset of ambiguous genitalia
publisher Shahid Sadoughi University of Medical Sciences
series International Journal of Reproductive BioMedicine
issn 2476-4108
2476-3772
publishDate 2017-08-01
description Background: Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. Case: In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions. No mutations were found in these genes either. Conclusion: It seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients.
url http://www.ssu.ac.ir/ijrm/index.php/ijrm/article/view/2490
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AT faezehazizi acasewithlateonsetofambiguousgenitalia
AT nasrinsaleh acasewithlateonsetofambiguousgenitalia
AT mirdavoodomrani acasewithlateonsetofambiguousgenitalia
AT sorayasalehgargari casewithlateonsetofambiguousgenitalia
AT faezehazizi casewithlateonsetofambiguousgenitalia
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