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A Case With Late Onset of Ambiguous Genitalia Publisher



Gargari SS1 ; Azizi F2 ; Saleh N3 ; Omrani MD2
Authors

Source: International Journal of Reproductive BioMedicine Published:2017


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. © 2017, Research and Clinical Center for Infertitlity. All rights reserved.
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