A Case with late onset of ambiguous genitalia.

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

Abstract readCase Reports

In one paragraph

Article in International journal of reproductive biomedicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Soraya Saleh GargariFeto-Maternal Unit, Mahdieh Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran.

Faezeh AziziDepartment of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Nasrin SalehICU Unit, Shaheed Rajaei Cardiovascular Medical and Research Center, Tehran, Iran.

Mir Davood OmraniDepartment of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAmbiguous 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.

conclusionIt seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients.

Indexed as

Ambiguous genitaliaMale pseudohermaphroditismMutations

Identifiers

PMID28580451

PMCPMC5447835

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