hrp0095p1-439 | Diabetes and Insulin | ESPE2022

Deciphering Monogenic Diabetes Mellitus in Spanish Pediatric Patients: A Cross-Sectional Study

Gomes Porras Mariana , Coral Barreda Bonis Ana , Salamanca Fresno Luis , González Casado Isabel , Campos Barros Ángel

Background and aims: The introduction of next-generation sequencing (NGS) as an essential tool for the routine molecular diagnosis of DM has highlighted the under-diagnosis of monogenic diabetes mellitus (MonDM). Accurate molecular diagnosis of the MonDM subtype has important implications for prognosis and choice of treatment, family counseling and health management, enabling precision medicine. The main objective was to clinically and molecularly characterize...