International Journal of
Reproductive Biomedicine
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Volume 15, Issue 3 (5-2017)
IJRM 2017, 15(3): 175-178 |
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Gargari S S, Azizi F, Saleh N, Omrani M D. A Case with late onset of ambiguous genitalia. IJRM 2017; 15 (3) :175-178
URL: http://ijrm.ir/article-1-803-en.html
URL: http://ijrm.ir/article-1-803-en.html
1- Feto-Maternal Unit, Mahdieh Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran
2- Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3- ICU Unit, Shaheed Rajaei Cardiovascular Medical and Research Center, Tehran, Iran
2- Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3- ICU Unit, Shaheed Rajaei Cardiovascular Medical and Research Center, Tehran, Iran
Abstract: (2751 Views)
Background: Ambiguous genitalia is an uncommon situation that happensbetween 1 and 2 per every 1000 live births and falls under the umbrella diagnosisof disorders of sexual development.
Case: In this article, we report a case of male pseudohermaphroditism withambiguous genitalia. The proband was a 12 yr old girl without any uterus orovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexualdifferentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY geneswere sequenced in both directions. No mutations were found in these geneseither.
Conclusion: It seems advisable to be cautious in similar cases, and reviseprotocol for tracing the genes involved in the patients.
Case: In this article, we report a case of male pseudohermaphroditism withambiguous genitalia. The proband was a 12 yr old girl without any uterus orovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexualdifferentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY geneswere sequenced in both directions. No mutations were found in these geneseither.
Conclusion: It seems advisable to be cautious in similar cases, and reviseprotocol for tracing the genes involved in the patients.
Type of Study: Original Article |
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