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Objective Polycystic ovary syndrome ( PCOS) is a frequent condition, affecting about 15% of women of reproductive age. Because of its familial occurrence, a multifactorial model of susceptibility, including both genetic and environmental factors, has been proposed. However, the identification of genetic factors has been elusive. Design Case-control study aimed at evaluating possible associations between functionally relevant variants of the luteinizing hormone/choriogonadotrophin receptor gene ( LHCGR) and PCOS phenotype. Patients A total of 198 PCOS and 187 non- PCOS women, aged 14-35 years, of Sardinian origin, were referred to the outpatient clinic of the Department of Obstetrics and Gynaecology of the University of Cagliari ( Sardinia). PCOS diagnosis was based on the Rotterdam criteria. Measurements We determined the genotype of ins18 LQ, S291 N and S312 N variants at the LHCGR locus. Genotype was related to the presence or absence of PCOS and to several clinical and biochemical characteristics. Results The presence of at least one 312 N allele was strongly associated with PCOS risk ( OR, 2·04; 95% CI, 1·32-3·14; χ2, 10·47; P = 0·001). 312 N homozygosity was associated with a further risk increase ( OR, 2·73; 95% CI, 1·25-5·95; χ2, 6·65; P = 0·01). The number of ins18 LQ alleles was associated with LH serum levels in controls (χ2, 8·04, P = 0·017). Conclusions For the first time, we have identified a genetic variant that is strongly associated with PCOS in an isolated population. These results, if confirmed in other cohorts, may provide the opportunity to test the S312 N genotype at the LHCGR locus in fertile women to assess the risk of PCOS. The avoidance of triggering factors like weight increase may improve the reproductive outcome of potentially at-risk subjects. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study is to determine the ability of metformin treatment in reducing the prevalence of metabolic syndrome (MS) and its hepatic involvement in young hyperinsulinaemic overweight patients with polycystic ovarian syndrome (PCOS)., Design: Clinical Trial., Patients: We recruited 140 hyperinsulinaemic overweight women with PCOS in their reproductive age. Metformin treatment (500 mg × 3/die) was prescribed to each patient for twelve months., Measurements: The primary outcome was to evaluate the prevalence of nonalcoholic fatty liver disease (NAFLD) and MS in hyperinsulinaemic overweight patients with PCOS. The secondary outcome was to evaluate, in the same patients, the effects of metformin therapy on endocrine, metabolic and hepatic parameters., Results: At basal evaluation, NAFLD was diagnosed in 81 of 140 patients with PCOS (57·85%); MS was present only in the NAFLD group (32·09%vs 0%; P < 0·001). After twelve months, metformin is able to significantly reduce, in the same group, the prevalence of MS (28·9%vs 13·5%; P < 0·01). An improvement of hepatic parameters and a significant decrease in oligomenorrhea (85·7%vs 19%, P < 0·001) were also observed., Conclusions: Treatment with metformin is indicated in all hyperinsulinaemic overweight patients with PCOS, especially in those with NAFLD. These data appear even more interesting considering their increased risk to develop metabolic and hepatic complications., (© 2011 Blackwell Publishing Ltd.)