A Case with late onset of ambiguous genitalia | Zendy

Soraya Saleh Gargari | Zendy; Faezeh Azizi | Zendy; Nasrin Saleh | Zendy; Mir Davood Omrani | Zendy

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A Case with late onset of ambiguous genitalia

Author(s) -

Soraya Saleh Gargari,

Faezeh Azizi,

Nasrin Saleh,

Mir Davood Omrani

Publication year - 2017

Publication title -

international journal of reproductive biomedicine (ijrm)

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.445

H-Index - 29

eISSN - 2476-4108

pISSN - 2476-3772

DOI - 10.29252/ijrm.15.3.175

Subject(s) - male pseudohermaphroditism , testis determining factor , disorders of sex development , proband , external genitalia , ambiguous genitalia , pseudohermaphroditism , gene , girl , hermaphrodite , biology , inguinal canal , secondary sex characteristic , sexual differentiation , genetics , gynecology , medicine , mutation , endocrinology , anatomy , y chromosome , zoology , hormone , general surgery , inguinal hernia , hernia

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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