5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family

KEY CLINICAL MESSAGE: 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred until puberty because spontaneous virilization occurs...

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Detalles Bibliográficos
Autores principales: Noroozi Asl, Samaneh, Ibrahimi, Reza, Bagheri, Sepideh, Lotfi, Mojtaba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172458/
https://www.ncbi.nlm.nih.gov/pubmed/37180321
http://dx.doi.org/10.1002/ccr3.7269
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author Noroozi Asl, Samaneh
Ibrahimi, Reza
Bagheri, Sepideh
Lotfi, Mojtaba
author_facet Noroozi Asl, Samaneh
Ibrahimi, Reza
Bagheri, Sepideh
Lotfi, Mojtaba
author_sort Noroozi Asl, Samaneh
collection PubMed
description KEY CLINICAL MESSAGE: 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred until puberty because spontaneous virilization occurs and the patient can engage in the decision‐making process. ABSTRACT: 5‐Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family.
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spelling pubmed-101724582023-05-12 5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family Noroozi Asl, Samaneh Ibrahimi, Reza Bagheri, Sepideh Lotfi, Mojtaba Clin Case Rep Case Report KEY CLINICAL MESSAGE: 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred until puberty because spontaneous virilization occurs and the patient can engage in the decision‐making process. ABSTRACT: 5‐Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family. John Wiley and Sons Inc. 2023-05-10 /pmc/articles/PMC10172458/ /pubmed/37180321 http://dx.doi.org/10.1002/ccr3.7269 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Report
Noroozi Asl, Samaneh
Ibrahimi, Reza
Bagheri, Sepideh
Lotfi, Mojtaba
5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family
title 5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family
title_full 5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family
title_fullStr 5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family
title_full_unstemmed 5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family
title_short 5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family
title_sort 5‐alpha reductase deficiency; an important cause of 46, xy dsd: report of three cases within a family
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172458/
https://www.ncbi.nlm.nih.gov/pubmed/37180321
http://dx.doi.org/10.1002/ccr3.7269
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