hrp0098p1-129 | Diabetes and Insulin 3 | ESPE2024

Molecular and clinical profiles of pediatric monogenic diabetes subtypes: comprehensive genetic analysis by next-generation sequencing of 138 patients

Zhou Qiaoli , samadli Sama , zheng Bixia , Zhang Aihua , Gu Wei

Background: Single gene variants that give rise to neonatal diabetes mellitus (NDM), maturity onset diabetes of the young (MODY) and syndromic forms of diabetes mellitus (SDM) are responsible for 3.1-4.2% of all diabetes cases. Next generation sequencing techniques (NGS) are the game changer in terms of accurate diagnosis of monogenic diabetes (MD) which in turn allows the most appropriate treatment and the more precise prognostics. This single-center study wi...