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
Descripción
Sumario: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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