Abstract
Galactosemia is an autosomal recessive genetic disorder of the galactose metabolism, caused by impaired activity of galactose-1-phosphate uridyltransferase (GALT). Complete deficiency or severely reduced activity of GALT affects approximately 1:30,000 to 1:50,000 persons. Girls and women with classic galactosemia have reduced ovarian reserve with elevated serum levels of follicle-stimulating hormone (FSH) and reduced concentrations of anti-Müllerian hormone (AMH) compared to age-matched controls (12). It has been estimated that more than 80% of girls with classic galactosemia experience premature ovarian insufficiency in early adulthood. The pathogenesis of the observed accelerated follicle loss is unknown.
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