Abstract

We determined the relationship of metabolic syndrome (MBS) to polycystic ovary syndrome (PCOS). We tested the hypothesis that parental MBS is related to the PCOS phenotype in their offspring. We phenotyped for MBS and PCOS in our General Clinical Research Center. 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. We measured anthropometrics, blood pressure, fasting lipids and androgens, oral glucose tolerance, and ultrasonographically determined polycystic ovary status. MBS in parents, and PCOS features in mothers, were related to the presence of PCOS features in probands. 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 (< or =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. Familial factors related to paternal MBS seem to be fundamental to the pathogenesis of PCOS.

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