Pregnancy in classic galactosemia despite undetectable anti-Mullerian hormone

C.S. Gubbels, S.M. Kuppens, J.A. Bakker, C.J. Konings, K.W. Wodzig, M.G. de Sain van der Velden, P.P. Menheere, M.E. Rubio Gozalbo*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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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.
Original languageEnglish
Pages (from-to)1293.e13-16
JournalFertility and Sterility
Issue number4
Publication statusPublished - 1 Jan 2009

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