Objective: To report a pregnancy in a patient with classic galactosemia despite signs of no ovarian reserve to draw attention to the limited predictive value of ovarian reserve tests in these patients.
Design: Case report.
Setting: Secondary and tertiary care center.
Patient(s): A patient with classic galactosemia with premature ovarian failure and two previous pregnancies.
Intervention(s): Exogenous FSH ovarian reserve test and anti-Müllerian hormone (AMH) measurement.
Main outcome measure(s): 17beta-Estradiol response, AMH level.
Result(s): Pregnancy despite undetectable AMH (<0.1 microg/L) and no E(2) response (exogenous FSH ovarian reserve test).
Conclusion(s): Fluctuating premature ovarian failure makes fertility counseling of patients with classic galactosemia difficult. Commonly used ovarian function and reserve tests seem to have no significance.