hrp0089p2-p064 | Diabetes & Insulin P2 | ESPE2018

Early Diagnosis of Diabetes Type 2 in Children with Progeria Syndromes

Bald Martin , Timmermann Kirsten , Wadien Tanja , Krahling Eva , Holder Martin

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from l...

hrp0092p1-51 | Fat, Metabolism and Obesity | ESPE2019

Pathogenic Mutations and Variants in KSR2 in a Cohort of Obese Children

Körber Ingrid , Sowada Nadine , Schirmer Melanie , Herrmann Gloria , Nunziata Adriana , Bald Martin , Ehehalt Stefan , Paetow Ulrich , Ohlenschläger Ute , Rabenstein Hannah , Siebert Reiner , von Schnurbein Julia , Wabitsch Martin

Background: Kinase suppressor of Ras 2 (KSR2) gene codes for a scaffold protein modulating intracellular pathways that involve MEK/BRAF cascade and AMPK signaling. KSR2 plays an important role in energy balance regulation, and KSR2 mutations were reported to be associated with obesity and insulin resistance in mice and humans. In transfected cells, several KSR2 mutations lead to impaired fatty acid oxidation, which improved under met...