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): 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.
Gubbels, C. S., Kuppens, S. M., Bakker, J. A., Konings, C. J., Wodzig, K. W., de Sain van der Velden, M. G., Menheere, P. P., & Rubio Gozalbo, M. E. (2009). Pregnancy in classic galactosemia despite undetectable anti-Mullerian hormone. Fertility and Sterility, 91(4), 1293.e13-16. https://doi.org/10.1016/j.fertnstert.2008.12.031