Galactosemia is a metabolic disease wherein galactose, a sugar found in milk products, cannot be properly metabolized, causing an elevated blood galactose concentration.1 This disease has several variants, including a "classic" form. The "classic" form has long been associated with premature ovarian failure, although the mechanism by which this occurs is unclear. However, in our experience, variant forms of galactosemia can also be associated with premature ovarian failure, and the goal of this study is to present a series of cases wherein this association was found to occur, especially in circumstances where premature ovarian failure led to the diagnosis of a galactosemia variant.
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