Fertility preservation in female classic galactosemia patients

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Fertility preservation in female classic galactosemia patients

Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The unique pathophysiology of clas...

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BACKGROUND Hypergonadotropic hypoestrogenic infertility is the most burdensome complication for females suffering from classic galactosemia. In contrast, male gonadal function seems less affected. The underlying mechanism is not understood and several pathogenic mechanisms have been proposed. Timing of the lesion, prenatal or chronic post-natal, or a combination of both are not yet clear. MET...

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ژورنال

عنوان ژورنال: Orphanet Journal of Rare Diseases

سال: 2013

ISSN: 1750-1172

DOI: 10.1186/1750-1172-8-107