Steroid 5 alpha-reductase 2 deficiency

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Arquivos
art_MENDONCA_Steroid_5_alphareductase_2_deficiency_2016.PDF (580.38 KB)
Citações na Scopus
72
Tipo de produção
article
Data de publicação
2016
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
PERGAMON-ELSEVIER SCIENCE LTD
Autores
RUSSELL, David W.
WILSON, Jean D.
Citação
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v.163, p.206-211, 2016
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5 alpha-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46,XY sex development, termed 5a-reductase type 2 deficiency and that was described forty years ago. Many mutations in the encoding gene have been reported in different ethnic groups. In affected 46,XY individuals, female external genitalia are common, but Mullerian ducts regress, and the internal urogenital tract is male. Most affected males are raised as females, but virilization occurs at puberty, and male social sex develops thereafter with high frequency. Fertility can be achieved in some affected males with assisted reproduction techniques, and adults with male social sex report a more satisfactory sex life and quality of life as compared to affected individuals with female social sex.
Palavras-chave
Disorders of sexual differentiation (DSD), Ambiguous genitalia, Gender identity/behavior, Androgen action, Dihydrotestosterone
URI
https://observatorio.fm.usp.br/handle/OPI/16993
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/IPq
Artigos e Materiais de Revistas Científicas - LIM/42