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Human Reproduction Update Advance Access published online on July 11, 2006
Human Reproduction Update, doi:10.1093/humupd/dml031
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received March 1, 2006
Revised May 26, 2006
Accepted June 8, 2006

Article

Pathophysiology of impaired ovarian function in galactosaemia

T. Forges 1 *, P. Monnier-Barbarino 1, B. Leheup 2, and P. Jouvet 3

1 Department of Reproductive Medicine, Maternité Régionale Universitaire, Nancy Cedex, France
2 Research Unit EA 4002, Université Nancy I, Vandoeuvre les Nancy Cedex
3 Paediatric Intensive Care Unit, Hôpital Sainte Justine, Montréal, Québec, Canada

* To whom correspondence should be addressed.
T. Forges, E-mail: t.forges{at}maternite.chu-nancy.fr


  Abstract

Classical galactosaemia is an inherited inborn error of the major galactose assimilation pathway, caused by galactose-1-phosphate uridyltransferase (GALT) deficiency. Many GALT mutations have been described, with different clinical consequences. In severe forms, newborns present with a life-threatening, acute toxic syndrome that rapidly regresses under a galactose-restricted diet. However, long-term complications, particularly cognitive and motor abnormalities, as well as hypergonadotrophic hypogonadism in female patients are still unavoidable. The pathogenesis of galactose-induced ovarian toxicity remains unclear but probably involves galactose itself and its metabolites such as galactitol and UDP-galactose. Possible mechanisms of ovarian damage include direct toxicity of galactose and metabolites, deficient galactosylation of glycoproteins and glycolipids, oxidative stress and activation of apoptosis. As there is no aetiological treatment, clinical management of ovarian failure in galactosaemic patients principally relies on hormonal replacement therapy to induce pubertal development and to prevent bone loss and other consequences of estrogen deprivation. Further investigations will be necessary to better understand the metabolic flux of galactose through its biochemical pathways and the mechanisms of these secondary complications. The aim of this article is to present an extensive review on the pathogenesis and clinical management of galactose-induced premature ovarian failure.

Keywords: apoptosis/galactitol/galactosaemia/galactose/premature ovarian failure.
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