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Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone
Cynthia S Gubbels1, Simone M I Kuppens, Jaap A Bakker
1Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.
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.
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