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Ovarian function in girls and women with GALT-deficiency galactosemia Fridovich-Keil JL; Gubbels CS; Spencer JB; Sanders RD; Land JA; Rubio-Gozalbo EJ Inherit Metab Dis 2011[Apr]; 34 (2): 357-66Primary 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.|Adolescent[MESH]|Adult[MESH]|Animals[MESH]|Child[MESH]|Epigenesis, Genetic[MESH]|Escherichia coli/metabolism[MESH]|Female[MESH]|Follicle Stimulating Hormone/metabolism[MESH]|Galactose/metabolism[MESH]|Galactosemias/*diagnosis/*genetics[MESH]|Humans[MESH]|Ovary/pathology[MESH]|Primary Ovarian Insufficiency/genetics[MESH]|Puberty[MESH]|Sepsis/genetics[MESH] |
