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Paper Information

Journal:   INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE)   March 2017 , Volume 15 , Number 3; Page(s) 175 To 178.
 
Paper: 

A Case with late onset of ambiguous genitalia (Case report)

 
 
Author(s):  SALEH GARGARI SORAYA, AZIZI FAEZEH, Saleh Nasrin, OMRANI MIR DAVOOD*
 
* Department of Medical Genetics, Faculty of Medicine, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
 
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.
 
Keyword(s): Ambiguous genitalia,Male pseudohermaphroditism,Mutations
 
References: 
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