Dyslipidemia and metabolic syndrome in the sisters of women with polycystic ovary syndrome

Context: Dyslipidemia is a feature of polycystic ovary syndrome (PCOS), but its pathogenesis remains controversial. Objective: The objective of this study was to test the hypothesis that dyslipidemia is a heritable trait in sisters of women with PCOS. Design: A case-control design was used. Setting: The study took place at General Clinical Research Centers in four academic medical centers in the United States. Patients: The subjects included 385 sisters of women with PCOS with the following reproductive phenotypes: sisters with PCOS (n = 51), sisters with hyperandrogenemia and regular menses (HA) (n = 38), unaffected sisters (n = 143), and unknown phenotypes (n = 153). One hundred twenty-five control women of comparable age, body mass index, and ethnicity to women with PCOS were included. Interventions: Fasting blood was obtained for measurements of lipid profile, reproductive hormones, glucose, and insulin levels. Main Outcome Measures: The main outcome measures included lipid and lipoprotein levels and prevalence of metabolic syndrome. Results: Sisters with PCOS and HA phenotypes had higher total (P ≤ 0.001) and low-density lipoprotein cholesterol levels (P ≤ 0.01) compared with unaffected sisters and control women. Triglyceride levels were elevated only in sisters with the PCOS phenotype (P < 0.05). The prevalence of metabolic syndrome was increased in sisters with the PCOS (n = 29) and HA(n = 17) phenotypes compared with unaffected sisters (n = 85) (P < 0.001 and P < 0.05, respectively). Conclusions: Low-density lipoprotein levels are increased in affected sisters of women with PCOS consistent with a heritable trait. The prevalence of metabolic syndrome is increased in affected sisters.