Fertility preservation in female classic galactosemia patients

Hdl Handle:
http://hdl.handle.net/10147/296788
Title:
Fertility preservation in female classic galactosemia patients
Authors:
van Erven, Britt; Gubbels, Cynthia S; van Golde, Ron J; Dunselman, Gerard A; Derhaag, Josien G; de Wert, Guido; Geraedts, Joep P; Bosch, Annet M; Treacy, Eileen P; Welt, Corrine K; Berry, Gerard T; Rubio-Gozalbo, M E
Citation:
Orphanet Journal of Rare Diseases. 2013 Jul 16;8(1):107
Issue Date:
16-Jul-2013
URI:
http://dx.doi.org/10.1186/1750-1172-8-107; http://hdl.handle.net/10147/296788
Abstract:
Abstract 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.
Item Type:
Journal Article

Full metadata record

DC FieldValue Language
dc.contributor.authorvan Erven, Britt-
dc.contributor.authorGubbels, Cynthia S-
dc.contributor.authorvan Golde, Ron J-
dc.contributor.authorDunselman, Gerard A-
dc.contributor.authorDerhaag, Josien G-
dc.contributor.authorde Wert, Guido-
dc.contributor.authorGeraedts, Joep P-
dc.contributor.authorBosch, Annet M-
dc.contributor.authorTreacy, Eileen P-
dc.contributor.authorWelt, Corrine K-
dc.contributor.authorBerry, Gerard T-
dc.contributor.authorRubio-Gozalbo, M E-
dc.date.accessioned2013-07-22T13:29:56Z-
dc.date.available2013-07-22T13:29:56Z-
dc.date.issued2013-07-16-
dc.identifier.citationOrphanet Journal of Rare Diseases. 2013 Jul 16;8(1):107-
dc.identifier.urihttp://dx.doi.org/10.1186/1750-1172-8-107-
dc.identifier.urihttp://hdl.handle.net/10147/296788-
dc.description.abstractAbstract 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.-
dc.titleFertility preservation in female classic galactosemia patients-
dc.typeJournal Article-
dc.language.rfc3066en-
dc.rights.holderBritt van Erven et al.; licensee BioMed Central Ltd.-
dc.description.statusPeer Reviewed-
dc.date.updated2013-07-22T11:05:57Z-
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