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International Journal of Reproductive Medicine
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd
ISSN: 1680-6433
EISSN: 2008-2177
Vol. 15, No. 3, 2017, pp. 175-178
Bioline Code: rm17024
Full paper language: English
Document type: Case Report
Document available free of charge

International Journal of Reproductive Medicine, Vol. 15, No. 3, 2017, pp. 175-178

 en A Case with late onset of ambiguous genitalia
Gargari, Soraya Saleh; Azizi, Faezeh; Saleh, Nasrin & Omrani, Mir Davood

Abstract

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.

Keywords
Ambiguous genitalia; Male pseudohermaphroditism; Mutations

 
© Copyright 2017 - Iranian Journal of Reproductive Medicine
Alternative site location: http://www.ijrm.ir

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