International Journal of Reproductive BioMedicine
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd
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 BioMedicine, Vol. 15, No. 3, 2017, pp. 175-178
© Copyright 2017 - International Journal of Reproductive Medicine
A Case with late onset of ambiguous genitalia|
Gargari, Soraya Saleh; Azizi, Faezeh; Saleh, Nasrin & Omrani, Mir Davood
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
Conclusion: It seems advisable to be cautious in similar cases, and revise
protocol for tracing the genes involved in the patients.
Ambiguous genitalia; Male pseudohermaphroditism; Mutations.
Alternative site location: http://www.ijrm.ir