hrp0089p1-p049 | Diabetes & Insulin P1 | ESPE2018

Life Changing Decisions due to Etiological Genetic Diagnosis in Families of Children with Maturity Onset Diabetes of the Young (MODY)

Bril Gherta , Vaxillaire Martine , Gruber Noah , Mazor-Aronovitch Kineret , Ben-Ami Michal , Ben-David Rachel Frumkin , Yeshayahu Yonathan , Sand Olivier , Bonnefond Amelie , Froguel Philippe , Pinhas-Hamiel Orit

Background: Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of disorders characterized by pancreatic beta-cell dysfunction, and usually referred to monogenic forms of diabetes mellitus to distinguish them from the more common type 1 (T1D) or type 2 diabetes (T2D). Fourteen different MODY genetic subtypes have been identified so far. Making a definite diagnosis is very challenging because of overlapping clinical phenotypes between diabetes subtypes. Neverth...