Akademik Veri Yönetim Sistemi
INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES, cilt.43, sa.2, ss.244-251, 2023 (SCI-Expanded)
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/m(2), 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), HNF1 beta (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.