Endocrine Abstracts

Introduction: MODY 5 is a rare form of autosomal dominant monogenic diabetes with a broad phenotypical spectrum that occurs with pancreatic and extra-pancreatic clinical manifestations, such as: malformation and dysfunction of the pancreas, nephrourologic anomalies, impaired renal function, hepatopathy and neurocognitive defects. It is caused by a mutation of the gene encoding hepatocyte nuclear transcription factor 1 beta (HNF1β).Case 1: M...