부산대학교 도서관

Background: There is no apparent data on the prevalence of maturity-onset diabetes of young (MODY) in adults in Turkey. Aim: We aimed to define the prevalence in our early-onset diabetes cohort and find the most prevalent types of MODY in this selected group. Methods: We included 92 patients who were diagnosed with either two types of diabetes under the age of 35 with a strong family history between 2014 and 2020. We excluded patients with low C-peptide levels and any positivity for beta-cell autoimmunity markers. A panel of fourteen genes of MODY was analyzed for each patient with a next-generation sequence analysis method. Results: The mean age for the diagnosis of diabetes was 27.9±8.0 years, and most of the patients were male (F/M:37/55). The median body mass index was 27 (19–32) kg/m2, while the median HbA1c level was 6.4% (5–17%). Seven patients had eight pathogenic or likely pathogenic variants (7/92; 7.6%) of MODY genes with variants of GCK (MODY 2, n:1), HNF1A (MODY3, n:1), HNF1β (MODY5, n:1), ABCC8 (MODY12, n:2), INS (MODY 10, n:1), HNF4A (MODY 1, n:1), and PDX1 (MODY4, n:1). Conclusion: Molecular genetic diagnosis of MODY is necessary for optimal follow-up, treatment, prognosis, and genetic counseling because of the close relationship between phenotype and genotype. Even in our small-sample-sized cohort, we were able to detect MODY variants with appropriate patient selection, and we re-evaluated for additional clinical features for the newly diagnosed MODY patients according to their variants, modified their treatment, and screened their first-degree relatives. This result presents that diabetic patients below 35 age, without low C-peptide levels and any positivity for beta-cell autoimmunity markers, must be screened for MODY gene panel for diagnosis and genetic counseling. [ABSTRACT FROM AUTHOR]