Fertility preservation in female classic galactosemia patients

Orphanet Journal of Rare Diseases

M Estela Rubio-Gozalbo⁶  Gerard T Berry⁹  Corrine K Welt⁷  Eileen P Treacy³  Annet M Bosch⁵  Joep P Geraedts¹  Guido de Wert²  Josien G Derhaag⁴  Gerard A Dunselman⁴  Ron J van Golde⁴  Cynthia S Gubbels⁸  Britt van Erven⁶ 

[1] Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands;Department of Health, Ethics & Society, Maastricht University, Maastricht, the Netherlands;National Centre for Inherited Metabolic Disorders, Children’s University Hospital, Trinity College, Dublin, Ireland;Department of Obstetrics and Gynecology, Maastricht University Medical Center, Maastricht, the Netherlands;Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands;GROW, Research school for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands;Reproductive Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA;Currently: The Manton Center for Orphan Disease Research, Division of Genetics, Boston Children’s Hospital, Harvard Medical School, Boston, USA;The Manton Center for Orphan Disease Research, Division of Genetics, Boston Children’s Hospital, Harvard Medical School, Boston, USA

关键词: Cryopreservation;    Fertility preservation;    POI;    Primary ovarian insufficiency;    GALT deficiency;    Classic galactosemia;   

Others  :  863647
DOI  :  10.1186/1750-1172-8-107

 received in 2013-04-22, accepted in 2013-07-11,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 van Erven et al.; licensee BioMed Central Ltd.

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