An update of genetic basis of PCOS pathogenesis
Arch. endocrinol. metab. (Online)
;
62(3): 352-361, May-June 2018. tab, graf
Article
in English
| LILACS
| ID: biblio-950067
ABSTRACT
ABSTRACT 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. Arch Endocrinol Metab. 2018;62(3)352-61
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Polycystic Ovary Syndrome
Type of study:
Etiology study
/
Prognostic study
Limits:
Female
/
Humans
Language:
English
Journal:
Arch. endocrinol. metab. (Online)
Journal subject:
Endocrinology
/
Metabolism
Year:
2018
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de São Paulo/BR
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