Menstrual and reproductive history of mothers of galactosemic children.

OBJECTIVE

To test the hypothesis that female carriers of the galactosemia gene (mothers of galactosemic children) experience impaired fecundability and earlier age at natural menopause.

DESIGN

Retrospective cohort study comparing experiences of mothers of galactosemic children with mothers of children with phenylketonuria (PKU). Data collection consisted of a structured telephone interview with sections on menstrual, reproductive, and medical histories.

PARTICIPANTS

One hundred three galactosemia carriers and 116 PKU carriers (mean age 35.0 and 38.4 years, respectively), recruited from 38 metabolic disease clinics throughout the United States.

MAIN OUTCOME MEASURES: Time-to-pregnancy (a measure of fecundability), menstrual cycle patterns, and natural menopause.

RESULTS

No difference was seen between carriers of the galactosemia and the PKU gene in history of > or = 12 months of unprotected intercourse without a pregnancy, physician-diagnosed infertility, or amenorrhea lasting > 6 weeks. The fecundability ratio, adjusting for age and smoking before most recent pregnancy, was 1.17 (95% confidence interval [CI] 0.85 to 1.61). By age 45, 11% of galactosemia carriers who had not had a hysterectomy reported a natural menopause compared with 4% of PKU carriers (risk difference 7.2%, 95% CI -12.7% to 27.1%).

CONCLUSION

Fecundability and other measures of fertility did not differ between mothers of galactosemic children and mothers of children with PKU. Suggestions of an earlier age at natural menopause can not be addressed definitively in this cohort because of the small number of participants who were currently age 45 years or older but may warrant additional assessment as the cohort ages.