Wolfram-like syndrome with only mild diabetes mellitus symptoms: A case report and literature review

Wolfram-like syndrome (WFLS) is an extremely rare autosomal dominant genetic disorder caused by mutations in the WFS1 gene and is prone to be misdiagnosed. This article reports a 26-year-old male who has been admitted to the 81st Group Army Hospital in August 2025 due to polydipsia and polyuria. He was initially diagnosed with type 2 diabetes. Subsequently, an oral glucose tolerance test has been conducted: fasting blood glucose 6.68 mmol/L, insulin 11.5 uIU/L, and C-peptide 2.48 ng/mL; 2- hour blood glucose 18.71 mmol/L, insulin 51.4 uIU/L, and C-peptide 7.29 ng/mL. Insulin antibodies and glutamic acid decarboxylase antibodies are negative. Whole exome capture sequencing of genomic DNA reveals that he carries a heterozygous mutation in the WFS1 gene, c.2189 G＞A (p.Trp730Ter) (pathogenic mutation) and c.805 G＞A (p.Glu269Lys) (variant of uncertain significance). The final diagnosis is WFLS with mild diabetes. Later, treatment has been switched to glucagon-like peptide-1 receptor agonists. Ideal blood glucose is achieved in follow-up. For non-obese young-onset diabetic patients, with negative pancreatic auto-antibodies and no obvious impairment of pancreatic function, genetic testing to screenspecial types of diabetes is necessary for precise treatment.