Objective: To determine whether premature ovarian insufficiency (POI) associated with classic galactosemia results from a true impairment of ovarian function or from aberrant FSH.
Design: Cross-sectional study.
Setting: University research laboratory.
Patient(s): Study subjects included 35 girls and women with galactosemia and 43 control girls and women between the ages of <1 and 51 years.
Intervention(s): Blood sampling and medical and reproductive histories were obtained.
Main outcome measurement(s): We determined FSH and anti-Müllerian hormone (AMH) levels in subjects with and without classic galactosemia. FSH bioactivity was measured in a subset of girls and women with and without galactosemia who were not on hormone therapy.
Result(s): FSH levels were significantly higher and AMH levels were significantly lower in our galactosemic cases relative to controls. FSH bioactivity did not significantly differ between cases and controls.
Conclusion(s): Close to 90% of girls and women with classic galactosemia have a profound absence of ovarian function, a deficit that is evident shortly after birth, if not before. These patients have no evidence of abnormally functioning FSH. AMH levels can be assessed before menarche or after initiation of hormone therapy and may supplement FSH as a useful blood biomarker of ovarian function for patients with classic galactosemia.