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Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency

机译:eIF4ENIF1突变与原发性卵巢功能不全相关

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Context:Primary ovarian insufficiency (POI), or premature ovarian failure, results from ovarian follicle depletion with a consequent elevation of FSH levels before age 40 years. We identified a family in which 9 women in 3 consecutive generations developed menopause at approximately age 30 years. We hypothesized a genetic cause with a dominant mode of inheritance.
机译:背景:原发性卵巢功能不全(POI)或卵巢早衰是由于卵巢卵泡耗竭而导致40岁之前FSH水平升高所致。我们确定了一个家庭,其中连续3代中的9名妇女在大约30岁时出现了更年期。我们假设遗传原因占主导地位。

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