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.
Highlights
Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder that affects 5 to 20% of reproductive age women, and it is a major cause of hirsutism and anovulatory infertility [1]
PCOS is more than a reproductive disease; it is associated with a wide range of metabolic disorders, such as glucose intolerance, diabetes, dyslipidemia, hypertension, hepatic steatosis, and increased cardiovascular surrogate markers
In the first attempt to define diagnostic criteria, the National Institutes of Health (NIH) Conference proposed in 1990 that the presence of both hyperandrogenism and chronic anovulation were mandatory for diagnosis [3] (Table 1)
Summary
Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder that affects 5 to 20% of reproductive age women, and it is a major cause of hirsutism and anovulatory infertility [1]. Cross-sectional studies have shown that metabolic abnormalities are more common in the classic and NIH phenotypes, often classified together with the denomination of classic ( adopted in this current review), compared to the other Rotterdam phenotypes, namely, ovulatory and normoandrogenic (Table 2). The prevalence of insulin resistance in PCOS patients is around 70%; insulin resistance differs among phenotypes: 80% in the classic, 65% in the ovulatory and only 38% in the normoandrogenic phenotype [7]. Compared 183 normoandrogenic PCOS patients with 504 classic/ ovulatory PCOS patients and found a significantly higher prevalence of metabolic syndrome (OR 2.95) in the classic/ovulatory group [9]. This clinical and metabolic heterogeneity could be explained by distinct pathogenic causes. Ovarian dysfunction (Oligo-anovulation and/or polycystic ovarian morphology) (Both criteria needed)
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