Genetic and environmental aspect of polycystic ovary syndrome

Abstract

Polycystic ovary syndrome (PCOS) is a heterogeneous syndrome determined in most patients by the association of two main factors: hyperandrogenism and insulin resistance. These characters are probably independent of each other and seem to be inherited by several different mechanisms. In some patients homozygous gene alteration has been found but in most patients PCOS seems to be determined by the association of gene polymorphisms that are common in the general population but alone are unable to determine phenotypic consequences. Alteration of genes that regulate the initial steps of ovarian steroidogenesis is probably the main causal factor of hyperandrogenism. Insulin resistance may be the result of many different gene alterations including insulin receptor substrate (IRS)-1 and 2, calpain-10 and peroxisome proliferator-activated receptor gamma(PPARgamma). Some polymorphisms may be protective against other gene alterations. Insulin sensitivity is also modified by socioeconomic and cultural factors that influence quantity and quality of food and energy expenditure. However, even eating behavior and weight response to food intake may be under genetic regulation. Different combinations of multiple gene polymorphisms and of environmental factors explain the heterogeneity of PCOS.

A Comprehensive Analysis of Body Mass Index Effect on in Vitro Fertilization Outcomes

“…Although obesity has been reported as being present in only 40% ± 50% of women with PCOS [ 43 ], only 38% of Italian PCOS women had a BMI > 27 kg/m 2 , hence, it is possible that, in the USA, the prevalence of obesity among women with PCOS may be higher. Thus, it is likely that genetic and other lifestyle factors play a major role in supporting our observation [ 44 ].…”

Evaluation of the association between GHR exon 3 polymorphism and polycystic ovary syndrome among Han Chinese women

“…The syndrome is characterized by oligo-anovulation, hyperandrogenism, multiple small subcapsular cystic follicles in the ovary on ultrasonography and often found to be associated with insulin resistance [2,3]. PCOS has a strong genetic component [4]. Therefore, investigation of the molecular defect of genomic DNA polymorphisms may provide better knowledge of its patho-mechanisms and future therapies.…”

Healthy eating index in women with polycystic ovary syndrome: A case-control study

“…The risk of cardiovascular disease, type II diabetes, gestational diabetes, hypertension, lipid disorders, and endometrial cancer increases in women with PCOS ( 4 - 6 ). Although the exact causes of PCOS are not completely understood, current evidence showed that genetics and environmental factors play a role in PCOs pathogenesis ( 7 ). Lifestyle interventions have been recommended as first-line treatment in women with PCOs ( 8 ).…”