A Case with late onset of ambiguous genitalia

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...

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Detalles Bibliográficos
Autores principales: Gargari, Soraya Saleh, Azizi, Faezeh, Saleh, Nasrin, Omrani, Mir Davood
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research and Clinical Center for Infertility 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447835/
https://www.ncbi.nlm.nih.gov/pubmed/28580451
Descripción
Sumario: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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