The hypergonadotropic hypogonadism conundrum of classic galactosemia.

Britt Derks,Greysha Rivera-Cruz,Synneva Hagen-Lillevik,E Naomi Vos,Didem Demirbas,Kent Lai,Eileen P Treacy,Harvey L Levy,Louise E Wilkins-Haug,M Estela Rubio-Gozalbo,Gerard T Berry

Human reproduction update（2022）

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摘要

Elucidation of the molecular pathways underlying POI of any origin can greatly advance our insight into the pathogenesis and open new treatment avenues. Alterations in these molecular pathways might serve as markers of disease progression and efficiency of new treatment options.

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关键词

GALT deficiency,classic galactosemia,fertility preservation,folliculogenesis signaling pathways,galactose-1-phosphate uridylyltransferase,galactosemia type 1,hypergonadotropic hypogonadism,pregnancy,premature ovarian insufficiency,subfertility

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