Clinical Characteristics of Patients With MODY: A Literature Review and Retrospective Chart Review.

The clinical manifestation of hepatocyte nuclear factor-1-alpha () maturity-onset diabetes of the young (MODY) is highly variable. This study aims to investigate the clinical characteristics of patients with MODY in general, by geographical regions (Asian or non-Asian), mutations, and islet autoantibody status. A literature review and a chart review of patients with MODY were performed. The means and proportions from studies were pooled using the inverse variance method for pooling, and subgroup analyses were performed. A total of 109 studies involving 1,325 patients [41.5%, 95% confidence interval (CI): 35.2, 48.1; male] were identified. The mean age of diagnosis was 20.3 years (95% CI: 18.3-22.2), and the mean glycated hemoglobin was 7.3% (95% CI: 7.2-7.5). In comparison, Asian patients exhibited significantly higher HbA1c ( = 0.007) and 2-h post-load C-peptide ( = 0.012) levels and lower levels of triglyceride (TG) ( < 0.001), total cholesterol (TC) ( < 0.001), and high-density lipoprotein cholesterol (HDL-c) ( < 0.001) and less often had macrovascular complications ( = 0.014). The age of diagnosis was oldest in patients with mutations in the transactivation domain ( < 0.001). The levels of 2-h post-load C-peptide ( < 0.001), TG ( = 0.007), TC ( = 0.017), and HDL-c ( = 0.001) were highest and the prevalence of diabetic neuropathy was lowest ( = 0.024) in patients with DNA-binding domain mutations. The fasting ( = 0.004) and 2-h post-load glucose ( = 0.003) levels and the prevalence of diabetic neuropathy ( = 0.010) were higher among patients with positive islet autoantibodies. The study demonstrated that the clinical manifestations of MODY differed by geographical regions, mutations, and islet autoantibody status.