Werner syndrome: A rare cause of young-onset diabetes

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.

Automated summary

A 36-year-old male presented with young-onset diabetes and advanced peripheral vascular disease, along with multiple endocrine and nonendocrine abnormalities. Genetic studies revealed a novel pathogenic variant associated with Werner syndrome. This report emphasizes the importance of precise diagnosis for prognosis and genetic counseling.