hrp0097rfc9.4 | Diabetes and insulin 2 | ESPE2023

Clinical and genetic characteristics of patients suspected to have Maturity-Onset Diabetes of the Young in the Czech Republic

Dusatkova Petra , Vesela Klara , Kolarova Katerina , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

Introduction: Maturity-Onset Diabetes of the Young (MODY) represents the most frequent form of monogenic diabetes. Genetic testing of Czech patients with clinical suspicion on MODY began 22 years ago. Aim of the study was to describe the prevalence of MODY subtypes among referred probands with diabetes and to define their clinical characteristics and possible differences.Methods: Clinical criteria for genetic testing of ...

hrp0098p1-31 | Diabetes and Insulin 2 | ESPE2024

Rare forms of (non)syndromic monogenic diabetes in the Czech registry of patients susceptible for monogenic diabetes

Pruhova Stepanka , Dusatkova Petra , Vesela Klara , Kolarova Katerina , Lebl Jan , Sumnik Zdenek

Introduction: Monogenic diabetes accounts for approximately 3.5% of patients manifesting diabetes till 30 years. Majority of these patients had subtypes of Maturity-Onset Diabetes of the Young (MODY) caused by disruption of the genes encoding glucokinase (GCK), hepatocyte nuclear factor 1-alpha (HNF1A) or 4-alpha (HNF4A), respectively. However, also rare forms of monogenic diabetes could be detected particularly thanks to massive par...