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 ,Revised 4 December 2008 ,Accepted 11 December 2008.

References 

  1. Holton JB, Walter JH, Tyfield LA. Galactosaemia. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D,  Childs B,  Kinzler KW editor. The metabolic & molecular bases of inherited disease. New York: McGraw-Hill; 2001;p. 1553–1587
  2. Bosch AM, IJIst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, et al. Identification of novel mutations in classical galactosemia. Hum Mutat. 2005;25:502
  3. Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJI. Risk factors for premature ovarian failure in females with galactosemia. J Pediatr. 2000;137:833–841
  4. Gubbels CS, Land JA, Rubio-Gozalbo ME. Fertility and impact of pregnancies on the mother and child in classic galactosemia. Obstet Gynecol Surv. 2008;63:334–343
  5. Broekmans FJ, Kwee J, Hendriks DJ, Mol BW, Lambalk CB. A systematic review of tests predicting ovarian reserve and IVF outcome. Hum Reprod Update. 2006;12:685–718
  6. Broer SL, Mol BW, Hendriks D, Broekmans FJ. The role of antimullerian hormone in prediction of outcome after IVF: comparison with the antral follicle count. Fertil Steril. Published online March 2, 2008.
  7. Hazout A, Bouchard P, Seifer DB, Aussage P, Junca AM, Cohen-Bacrie P. Serum antimullerian hormone/mullerian-inhibiting substance appears to be a more discriminatory marker of assisted reproductive technology outcome than follicle-stimulating hormone, inhibin B, or estradiol. Fertil Steril. 2004;82:1323–1329
  8. Smeenk JM, Sweep FC, Zielhuis GA, Kremer JA, Thomas CM, Braat DD. Antimullerian hormone predicts ovarian responsiveness, but not embryo quality or pregnancy, after in vitro fertilization or intracytoplasmic sperm injection. Fertil Steril. 2007;87:223–226
  9. Gnoth C, Schuring AN, Friol K, Tigges J, Mallmann P, Godehardt E. Relevance of anti-Mullerian hormone measurement in a routine IVF program. Hum Reprod. 2008;23:1359–1365
  10. Fraisse T, Ibecheole V, Streuli I, Bischof P, de Ziegler D. Undetectable serum anti-Müllerian hormone levels and occurrence of ongoing pregnancy. Fertil Steril. 2008;89:723.e9–723.e11
  11. Sanders RD, Spencer JB, Epstein MP, Pollak SV, Vardhana PA, Lustbader JW, et al. Biomarkers of ovarian function in girls and women with classic galactosemia. Fertil Steril. Published online August 4, 2008.
  12. Fanchin R, de Ziegler D, Olivennes F, Taieb J, Dzik A, Frydman R. Endocrinology: exogenous follicle stimulating hormone ovarian reserve test (EFORT): a simple and reliable screening test for detecting ‘poor responders’ in in-vitro fertilization. Hum Reprod. 1994;9:1607–1611
  13. Forges T, Monnier-Barbarino P, Leheup B, Jouvet P. Pathophysiology of impaired ovarian function in galactosaemia. Hum Reprod Update. 2006;12:573–584
  14. Liu G, Hale GE, Hughes CL. Galactose metabolism and ovarian toxicity. Reprod Toxicol. 2000;14:377–384
  15. Charlwood J, Clayton P, Keir G, Mian N, Winchester B. Defective galactosylation of serum transferrin in galactosemia. Glycobiology. 1998;8:351–357
  16. Haberland C, Perou M, Brunngraber EG, Hof H. The neuropathology of galactosemia. A histopathological and biochemical study. J Neuropathol Exp Neurol. 1971;30:431–447
  17. Jaeken J, Kint J, Spaapen L. Serum lysosomal enzyme abnormalities in galactosaemia. Lancet. 1992;340:1472–1473
  18. Ornstein KS, McGuire EJ, Berry GT, Roth S, Segal S. Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res. 1992;31:508–511
  19. Sorge US, Kelton DF, Staufenbiel R. Short communication: prepartal concentration of estradiol-17β in heifers with stillborn calves. J Dairy Sci. 2008;91:1433–1437
  20. Brivet M, Raymond JP, Konopka P, Odievre M, Lemonnier A. Effect of lactation in a mother with galactosemia. J Pediatr. 1989;115:280–282
  21. de Jongh S, Vreken P, IJst L, Wanders RJ, Jakobs C, Bakker HD. Spontaneous pregnancy in a patient with classical galactosaemia. J Inherit Metab Dis. 1999;22:754–755
  22. Ohlsson A, Nasiell J, von Döbeln U. Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W. J Inherit Metab Dis. 2007;30:105
  23. Roe TF, Hallatt JG, Donnell GN, Ng WG. Childbearing by a galactosemic woman. J Pediatr. 1971;78:1026–1030
  24. Sardharwalla IB, Komrower G, Schwarz V. Pregnancy in classical galactosaemia. In:  Burman D,  Holton JB,  Pennock CA editor. Inherited disorders of carbohydrate metabolism: monograph based upon proceedings of the sixteenth Symposium of the Society for the Study of Inborn Errors of Metabolism. Bristol, United Kingdom: MTP Press; 1980;p. 125–132
  25. Schadewaldt P, Hammen HW, Kamalanathan L, Wendel U, Schwarz M, Bosch AM, et al. Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia - and review of the literature. Eur J Pediatr. Published online 24 September, 2008 [Epub ahead of print].
  26. Rogers SR, Bovee BW, Saunders SL, Segal S. Activity of hepatic galactose-metabolizing enzymes in the pregnant rat and fetus. Pediatr Res. 1989;25:161–166
  27. Rogers SR, Bovee BW, Saunders SL, Segal S. Galactose as a regulatory factor of its own metabolism by rat liver. Metabolism. 1989;38:810–815
  28. Pesch LA, Segal S, Topper YJ. Progesterone effects on galactose metabolism in prepubertal patients with congenital galactosemia and in rats maintained on high galactose diets. J Clin Invest. 1960;39:178–184

 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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