Pregnancy in classic galactosemia despite undetectable anti-Mullerian hormone

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-Mullerian hormone (AMH) measurement. Main Outcome Measure(s): 17 beta-Estradiol response, AMH level. Result(s): Pregnancy despite undetectable AMH(<0.1 mu g/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. (Fertil Steril (R) 2009;91:1293.e13-e16. (C) 2009 by American Society for Reproductive Medicine.)