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Article

The hypergonadotropic hypogonadism conundrum of classic galactosemia

13 Dec 2022

Abstract excerpt

BACKGROUND: Hypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galactose metabolism that invariably affects female patients. Since its recognition in 1979, data have become available regarding the clinical spectrum, and the impact on fertility. Many women have been counseled for infertility and the majority never try to conceive, yet spontaneous...

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PMID: 36512573
DOI: 10.1093/humupd/dmac041

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