The Molecular Basis of 5 alpha-Reductase Type 2 Deficiency

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art_BATISTA_The_Molecular_Basis_of_5_alphaReductase_Type_2_2022.PDF (901.33 KB)
Citações na Scopus
3
Tipo de produção
article
Data de publicação
2022
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
KARGER
Autores
Citação
SEXUAL DEVELOPMENT, v.16, n.2-3, p.171-183, 2022
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
The 5 alpha-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by the SRD5A2 gene, which maps to chromosome 2 (2p23), consists of 5 exons and 4 introns, and encodes a 254 amino acid protein. Disruptions in this gene are the molecular etiology of a subgroup of differences of sex development (DSD) in 46,XY patients. Affected individuals present a large range of external genitalia undervirilization, ranging from almost typically female external genitalia to predominantly typically male external genitalia with minimal undervirilization, including isolated micropenis. This is an updated review of the implication of the SRD5A2 gene in 5 alpha-reductase type 2 enzyme deficiency. For that, we identified 451 cases from 48 countries of this particular 46,XY DSD from the literature with reported variants in the SRD5A2 gene. Herein, we present the SRD5A2 mutational profile, the SRD5A2 polymorphisms, and the functional studies related to SRD5A2 variants to detail the molecular etiology of this condition. (c) 2022 S. Karger AG, Base
Palavras-chave
SRD5A2, 46,XY DSD, Differences of sexual development, Disorders of sexual development, Atypical genitalia, Dihydrotestosterone, 5a-Reductase type 2 deficiency
URI
https://observatorio.fm.usp.br/handle/OPI/50394
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Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICESP
Artigos e Materiais de Revistas Científicas - HC/IPq
Artigos e Materiais de Revistas Científicas - LIM/42