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...

hrp0098p2-83 | Diabetes and Insulin | ESPE2024

Phenotypic Spectrum at Diagnosis of Age-Related Endotypes of Type 1 Diabetes Mellitus: A Cross-Sectional Study in China

Zhou Qiaoli , Zheng Xueqing , Ma Chenguang , Zhao Xue , Gu Wei

Background: Emerging evidence suggests the presence of distinct endotypes of type 1 diabetes mellitus (T1DM): T1DE1 in individuals diagnosed at age <7 years in contrast to T1DE2 in those diagnosed at ≥13 years of age. We aimed to comprehensively explore the phenotypic heterogeneity of T1DM with respect to the age-related endotypes.Methods: This cross-sectional study was conducted in China involving 1,204 children n...