Associations of birthweight and gestational age with reproductive and metabolic phenotypes in women with polycystic ovarian syndrome and their first-degree relatives

Context: Low birthweight has been associated with metabolic and reproductive abnormalities in adults. Objective: The aim of the study was to examine the relationship between birthweight and gestational age and its association with reproductive and metabolic phenotypes in women with PCOS and their first-degree relatives. Design and Setting: We conducted a family-based study of PCOS at an academic health center. Patients or Other Participants: A total of 1038 individuals (845 females and 193 males) from the cohort and 168 controls participated in the study. Main Outcome Measures: The association between birthweight and familial phenotype was measured. Results: Self-reported and actual birthweight were highly correlated [Spearman correlation coefficient (r) = 0.81; 95% CI, 0.66, 0.89; P = 0.001) and concordant (concordance correlation coefficient =0.86; 95% lower limit=0.78). We noted that birthweight for both genders in PCOS families and controls fell within the 10th and 90th percentiles for gestational age based on U.S. population norms. The 50th percentiles for a gestational age of 40 wk were very similar (3409 g in PCOS, 3455 g for controls, and 3495 g for the United States). There were no significant associations between phenotype and birthweight in PCOS probands. Furthermore, there were not any significant relationships between phenotype and birthweight in female or male family members of the PCOS probands. Conclusions: Birthweight in PCOS families mirrors control and U.S. population data, even corrected for gestational age, and has no substantive association with reproductive and metabolic abnormalities in women with PCOS, their female relatives, or their male relatives.