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CASE REPORTS
Year : 2021  |  Volume : 12  |  Issue : 1  |  Page : 105-107

Werner syndrome: A rare cause of young-onset diabetes


1 Department of Endocrinology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
2 Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India

Correspondence Address:
Dr. Ana Soraya Palmira Dos Remedios Monteiro
Department of Endocrinology, Amrita Institute of Medical Sciences, Ponekkara P.O, Kochi 682041, Kerala.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jod.jod_35_20

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A 36-year-old male presented with young-onset diabetes and advanced peripheral vascular disease. He had a history of bilateral juvenile cataracts and premature aged appearance. Closer scrutiny unraveled multiple endocrine and nonendocrine abnormalities. Genetic studies revealed a novel pathogenic variant (homozygous c.3233+2T>c) confirming and expanding the mutation spectrum of Werner syndrome. This report highlights the need for precise diagnosis, which has important implications for prognosis and genetic counseling.


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