Ovarian function in Duarte galactosemia

Objective To determine if girls with Duarte variant galactosemia (DG) have an increased risk of developing premature ovarian insufficiency based on prepubertal anti-Mullerian hormone (AMH) levels. Design Cross-sectional study. Setting University research laboratory. Patient(s) Study volunteers included 57 girls with DG, 89 girls with classic galactosemia (GG), and 64 control girls between the ages of Intervention(s) Blood sampling. Main Outcome Measure(s) We determined AMH and FSH levels in study volunteers with and without Duarte variant or GG. Result(s) FSH levels were significantly higher and AMH levels significantly lower in girls with GG than in age-stratified control girls, but there was no significant difference between FSH and AMH levels in girls with DG and control girls. Conclusion(s) Although >80% of girls with GG in this study demonstrated low to undetectable AMH levels consistent with diminished ovarian reserve, 100% of girls with DG in our study demonstrated no apparent decrease in AMH levels or increase in FSH levels, suggesting that these girls are not at increased risk for premature ovarian insufficiency.