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Pathophysiology of impaired ovarian function in galactosaemia.
Hum Reprod Update. 2006 Sep-Oct; 12(5):573-84.HR

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.

Authors+Show Affiliations

Department of Reproductive Medicine, Maternité Régionale Universitaire, Nancy Cedex, France. t.forges@maternite.chu-nancy.frNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16835432

Citation

Forges, T, et al. "Pathophysiology of Impaired Ovarian Function in Galactosaemia." Human Reproduction Update, vol. 12, no. 5, 2006, pp. 573-84.
Forges T, Monnier-Barbarino P, Leheup B, et al. Pathophysiology of impaired ovarian function in galactosaemia. Hum Reprod Update. 2006;12(5):573-84.
Forges, T., Monnier-Barbarino, P., Leheup, B., & Jouvet, P. (2006). Pathophysiology of impaired ovarian function in galactosaemia. Human Reproduction Update, 12(5), 573-84.
Forges T, et al. Pathophysiology of Impaired Ovarian Function in Galactosaemia. Hum Reprod Update. 2006 Sep-Oct;12(5):573-84. PubMed PMID: 16835432.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pathophysiology of impaired ovarian function in galactosaemia. AU - Forges,T, AU - Monnier-Barbarino,P, AU - Leheup,B, AU - Jouvet,P, Y1 - 2006/07/11/ PY - 2006/7/13/pubmed PY - 2006/11/10/medline PY - 2006/7/13/entrez SP - 573 EP - 84 JF - Human reproduction update JO - Hum Reprod Update VL - 12 IS - 5 N2 - 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. SN - 1355-4786 UR - https://www.unboundmedicine.com/medline/citation/16835432/Pathophysiology_of_impaired_ovarian_function_in_galactosaemia_ L2 - https://academic.oup.com/humupd/article-lookup/doi/10.1093/humupd/dml031 DB - PRIME DP - Unbound Medicine ER -