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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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
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author Gargari, Soraya Saleh
Azizi, Faezeh
Saleh, Nasrin
Omrani, Mir Davood
author_facet Gargari, Soraya Saleh
Azizi, Faezeh
Saleh, Nasrin
Omrani, Mir Davood
author_sort Gargari, Soraya Saleh
collection PubMed
description 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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spelling pubmed-54478352017-06-02 A Case with late onset of ambiguous genitalia Gargari, Soraya Saleh Azizi, Faezeh Saleh, Nasrin Omrani, Mir Davood Int J Reprod Biomed Case Report 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. Research and Clinical Center for Infertility 2017-03 /pmc/articles/PMC5447835/ /pubmed/28580451 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gargari, Soraya Saleh
Azizi, Faezeh
Saleh, Nasrin
Omrani, Mir Davood
A Case with late onset of ambiguous genitalia
title A Case with late onset of ambiguous genitalia
title_full A Case with late onset of ambiguous genitalia
title_fullStr A Case with late onset of ambiguous genitalia
title_full_unstemmed A Case with late onset of ambiguous genitalia
title_short A Case with late onset of ambiguous genitalia
title_sort case with late onset of ambiguous genitalia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447835/
https://www.ncbi.nlm.nih.gov/pubmed/28580451
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