Ovarian function in girls and women with GALT-deficiency galactosemia

• Authors: Judith Fridovich-Keil, Emory University; Cynthia S. Gubbels, Maastricht University; Jessica B Spencer, Emory University; Rebecca Dean Sanders, Emory University; Jolande A. Land, University Medical Center Groningen; Estela Rubio-Gozalbo, Maastricht University
• Journal Title: Journal of Inherited Metabolic Disease
• Volume: Volume 34, Number 2
• Publisher: Wiley | 2011-04-01, Pages 357-366
• Type of Work: Article | Final Publisher PDF
• Publisher DOI: http://doi.org/10.1007/s10545-010-9221-4
• Subjects: Biology, Genetics; Health Sciences, Oncology
• Keywords: Science & Technology; Life Sciences & Biomedicine; Endocrinology & Metabolism; Genetics & Heredity; Medicine, Research & Experimental; Research & Experimental Medicine; FRAGILE-X PREMUTATION; TUMOR-SUPPRESSOR GENE; CLASSICAL GALACTOSEMIA; HYPERGONADOTROPIC HYPOGONADISM; GONADAL-FUNCTION; HORMONE-THERAPY; DEFECTIVE GALACTOSYLATION; SERUM TRANSFERRIN; PRENATAL EXPOSURE; FEMALE-PATIENTS

Abstract

Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.