Premature ovarian failure in galactosaemia: pathophysiology and clinical management

Classic galactosaemia is a rare aetiology of premature ovarian failure. It is caused by galactose-1-phosphate uridyltransferase deficiency and leads to a severe disease in the newborn. This acute toxic syndrome will completely regress under a galactose-free diet, but some long-term complications, particularly hypergonadotropic hypogonadism in female patients, are frequently observed. Ovarian toxicity could be due to intracellular accumulation of galactose metabolites or to deficient glycosylation reactions. Moreover, the tremendous follicular decrease in the galactosaemic ovary could also involve programmed cell death (apoptosis). As the exact mechanisms of this ovarian injury are still unknown, there is no prevention of follicular loss, thus clinical management especially includes hormonal replacement therapy in order to prevent bone loss and cardiovascular risks and sometimes to allow patients to become pregnant. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.