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Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report

Journal of Pediatric Endocrinology and Metabolism, ISSN: 2191-0251, Vol: 35, Issue: 12, Page: 1552-1555
2022
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Objectives: Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Many other multisystemic associations have been described including menstrual irregularities in female and hypogonadism in male patients. Case presentation: We present a first case of WFS associated with hypergonadotropic hypogonadism in a female adolescent diagnosed with WFS both clinically and genetically. Other causes of premature ovarian insufficiency (POI) have been excluded. Conclusions: This case report shows the importance of gonadal function assessment and follow-up in time for both genders.

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