A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.

Detalles Bibliográficos
Autores principales: Dalili, Setilla, Rabbani, Bahareh, Hassanzadeh Rad, Afagh, Koohmanaee, Shaahin, Mahdieh, Nejat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562857/
https://www.ncbi.nlm.nih.gov/pubmed/33088526
http://dx.doi.org/10.1002/ccr3.3028
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author Dalili, Setilla
Rabbani, Bahareh
Hassanzadeh Rad, Afagh
Koohmanaee, Shaahin
Mahdieh, Nejat
author_facet Dalili, Setilla
Rabbani, Bahareh
Hassanzadeh Rad, Afagh
Koohmanaee, Shaahin
Mahdieh, Nejat
author_sort Dalili, Setilla
collection PubMed
description Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
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spelling pubmed-75628572020-10-20 A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male Dalili, Setilla Rabbani, Bahareh Hassanzadeh Rad, Afagh Koohmanaee, Shaahin Mahdieh, Nejat Clin Case Rep Case Reports Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus. John Wiley and Sons Inc. 2020-06-18 /pmc/articles/PMC7562857/ /pubmed/33088526 http://dx.doi.org/10.1002/ccr3.3028 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Dalili, Setilla
Rabbani, Bahareh
Hassanzadeh Rad, Afagh
Koohmanaee, Shaahin
Mahdieh, Nejat
A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
title A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
title_full A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
title_fullStr A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
title_full_unstemmed A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
title_short A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
title_sort novel pathogenic variant of srd5a2 in an iranian psuedohermaphrodite male
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562857/
https://www.ncbi.nlm.nih.gov/pubmed/33088526
http://dx.doi.org/10.1002/ccr3.3028
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