Fertility preservation in female classic galactosemia patients

Britt van Erven, Cynthia S. Gubbels, Ron J. van Golde, Gerard A. Dunselman, Josien G. Derhaag, Guido de Wert, Joep P. Geraedts, Annet M. Bosch, Eileen P. Treacy, Corrine K. Welt, Gerard T. Berry, M. Estela Rubio-Gozalbo*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The unique pathophysiology of classic galactosemia with a severely reduced follicle pool at an early age requires an adjusted approach. In this article recommendations for physicians based on current knowledge concerning galactosemia and fertility preservation are made. Fertility preservation is only likely to be successful in very young prepubertal patients. In this group, cryopreservation of ovarian tissue is currently the only available technique. However, this technique is not ready for clinical application, it is considered experimental and reduces the ovarian reserve. Fertility preservation at an early age also raises ethical questions that should be taken into account. In addition, spontaneous conception despite POI is well described in classic galactosemia. The uncertainty surrounding fertility preservation and the significant chance of spontaneous pregnancy warrant counseling towards conservative application of these techniques. We propose that fertility preservation should only be offered with appropriate institutional research ethics approval to classic galactosemia girls at a young prepubertal age.
Original languageEnglish
Article number107
JournalOrphanet Journal of Rare Diseases
Publication statusPublished - 16 Jul 2013


  • Classic galactosemia
  • GALT deficiency
  • Primary ovarian insufficiency
  • POI
  • Fertility preservation
  • Cryopreservation


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