Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone
Received 27 October 2008; received in revised form 4 December 2008; accepted 11 December 2008. published online 09 February 2009.
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)
17β-Estradiol response, AMH level.
Result(s)
Pregnancy despite undetectable AMH (<0.1 μg/L) and no E2 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.
aDepartment of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands
bDepartment of Gynecology and Obstetrics, Catharina Hospital, Eindhoven, The Netherlands
cLaboratory of Inherited Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands
dDepartment of Internal Medicine, Catharina Hospital, Eindhoven, The Netherlands
eDepartment of Clinical Chemistry, Maastricht University Medical Center, Maastricht, The Netherlands
fLaboratory of Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands
Reprint requests: M. Estela Rubio-Gozalbo, M.D., Ph.D., Department of Pediatrics and Laboratory of Inherited Metabolic Diseases, Maastricht University Medical Center, Postbus 5800, NL-6202 AZ Maastricht, The Netherlands (FAX: 31-43-387-5246).
C.S.G. has nothing to disclose. S.M.I.K. has nothing to disclose. J.A.B. has nothing to disclose. C.J.A.M.K. has nothing to disclose. K.W.W. has nothing to disclose. M.G.M.d.S.-v.d.V. has nothing to disclose. P.P.M. has nothing to disclose. M.E.R-G. has nothing to disclose.
Supported by Profileringsfonds azM, Research Foundation of the Maastricht University Medical Center, and Galactosemie Onderzoek Fonds, Dutch Galactosemia Research Foundation.
ABSTRACT