Relationship of adolescent polycystic ovary syndrome to parental metabolic syndrome

Context: We determined the relationship of metabolic syndrome (MBS) to polycystic ovary syndrome (PCOS). Objective: We tested the hypothesis that parental MBS is related to the PCOS phenotype in their offspring. Design/Setting: We phenotyped for MBS and PCOS in our General Clinical Research Center. Patients: Girls with PCOS, 12-19 yr old (n = 36, including one pair of siblings), and their parents (35 mothers, 19 fathers) were recruited from the Pediatric Endocrinology Clinic. Healthy girls, 12-19 yr old (n = 21), were recruited as a reference population. Interventions: We measured anthropometrics, blood pressure, fasting lipids and androgens, oral glucose tolerance, and ultrasonographically determined polycystic ovary status. Main Outcome Measures: MBS in parents, and PCOS features in mothers, were related to the presence of PCOS features in probands. Results: Fathers had strikingly high prevalence of excess adiposity (94% were obese or overweight) and MBS (79%). Premenopausal mothers more commonly had MBS (36%) than features of PCOS (≤22%). Polycystic ovaries in proband offspring of premenopausal mothers were associated with maternal polycystic ovaries only in a minority of cases. Proband polycystic ovary status was completely concordant to fathers' MBS status (P = 0.008), but not their own or their mothers' MBS status, in families whose premenopausal mothers lacked polycystic ovaries. Proband prevalence of MBS was 27.8%, 3-fold greater than expected for obesity status. Conclusion: Familial factors related to paternal MBS seem to be fundamental to the pathogenesis of PCOS.