ABSTRACT
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.
