Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

摘要: Classical galactosaemia (CG) (OMIM 230400) is a rare inborn error of galactose metabolism caused by the deficiency enzyme galactose-1-phosphate uridylyltransferase (GALT, EC 2.7.7.12). Primary ovarian insufficiency (POI) most common long-term complication experienced females with CG, presenting hypergonadotrophic hypoestrogenic infertility affecting at least 80% despite new-born screening and lifelong dietary restriction. In this review, we describe hypothesized pathophysiology POI from implications timing dysfunction, new horizons future prospects for treatments fertility preservation.