Fertility and Sterility
Volume 91, Issue 4 , Pages 1293.e13-1293.e16, April 2009

Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone

  • Cynthia S. Gubbels, M.D.

      Affiliations

    • Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands
    • ,
  • Simone M.I. Kuppens, M.D.

      Affiliations

    • Department of Gynecology and Obstetrics, Catharina Hospital, Eindhoven, The Netherlands
    • ,
  • Jaap A. Bakker, M.Sc.

      Affiliations

    • Laboratory of Inherited Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands
    • ,
  • Constantijn J.A.M. Konings, M.D.

      Affiliations

    • Department of Internal Medicine, Catharina Hospital, Eindhoven, The Netherlands
    • ,
  • K. Will Wodzig, Ph.D.

      Affiliations

    • Department of Clinical Chemistry, Maastricht University Medical Center, Maastricht, The Netherlands
    • ,
  • Monique G.M. de Sain–van der Velden, Ph.D.

      Affiliations

    • Laboratory of Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands
    • ,
  • Paul P. Menheere, Ph.D.

      Affiliations

    • Department of Clinical Chemistry, Maastricht University Medical Center, Maastricht, The Netherlands
    • ,
  • M. Estela Rubio-Gozalbo, M.D., Ph.D.

      Affiliations

    • Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands
    • Laboratory of Inherited Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands
    • Corresponding Author InformationReprint 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).

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.

Key Words: Classic galactosemia, ovarian function, pregnancy, AMH

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 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.

PII: S0015-0282(08)04723-7

doi:10.1016/j.fertnstert.2008.12.031

Fertility and Sterility
Volume 91, Issue 4 , Pages 1293.e13-1293.e16, April 2009

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