An update of genetic basis of PCOS pathogenesis

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art_CRESPO_An_update_of_genetic_basis_of_PCOS_pathogenesis_2018.PDF (1.06 MB)
Citações na Scopus
80
Tipo de produção
article
Data de publicação
2018
DOI
SciELO
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
Autores
Citação
ARCHIVES OF ENDOCRINOLOGY METABOLISM, v.62, n.3, p.352-361, 2018
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder that affects 5-20% of reproductive age women. PCOS clinical symptoms include hirsutism, menstrual dysfunction, infertility, obesity and metabolic syndrome. There is a wide heterogeneity in clinical manifestations and metabolic complications. The pathogenesis of PCOS is not fully elucidated, but four aspects seem to contribute to the syndrome to different degrees: increased ovarian and/or adrenal androgen secretion, partial folliculogenesis arrest, insulin resistance and neuroendocrine axis dysfunction. A definitive etiology remains to be elucidated, but PCOS has a strong heritable component indicated by familial clustering and twin studies. Genome Wide Association Studies (GWAS) have identified several new risk loci and candidate genes for PCOS. Despite these findings, the association studies have explained less than 10% of heritability. Therefore, we could speculate that different phenotypes and subphenotypes are caused by rare private genetic variants. Modern genetic studies, such as whole exome and genome sequencing, will help to clarify the contribution of these rare genetic variants on different PCOS phenotypes.
Palavras-chave
Polycystic ovary syndrome, PCOS, genetics, pathogenesis, complex genetic trait
URI
https://observatorio.fm.usp.br/handle/OPI/27999
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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 - LIM/42
Artigos e Materiais de Revistas Científicas - ODS/03