2017•International Journal of Reproductive BioMedicine (IJRM)Open access

A Case with late onset of ambiguous genitalia

Soraya Saleh Gargari, Faezeh Azizi, Nasrin Saleh, Mir Davood Omrani

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.

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Key concepts: Male pseudohermaphroditism, Testis determining factor, Disorders of sex development, Proband, External genitalia, Ambiguous genitalia, Pseudohermaphroditism, Gene