Abstract
Background. Maturity-Onset Diabetes of the Young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 25 years of age, and in their family members. Methods. Genetic testing of the most prevalent MODY genes (GCK, HNF1A, HNF4A, HNF1B and INS) was undertaken for 48 families (51 affected individuals) by Sanger or targeted next generation sequencing. Results. A genetic diagnosis of MODY was made in 24/51 affected individuals from 21/48 families (44%). HNF1A and HNF4A MODY were the most common subtypes, accounting for 11/24 of MODY cases. Ten patients with HNF1A/ HNF4A and ABCC8 MODY and inadequate glycemic control were successfully transferred to sulfonylureas. Median HbA1c decreased from 7,9% [7,5-8,4] tо 6,3% [5,9-6,7] 3 months after transfer (p=0,0001). Conclusions. Genetic testing identified pathogenic HNF1A and HNF4A variants as the most common cause of MODY in Ukraine. Transfer to sulfonylureas substantially improved the glycemic control of these patients.
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