ea0081ep375 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022
V de Assuncao Guilherme
, Fonseca Liliana
, Mendes Catarina
, Teixeira Sofia
, Joao Oliveira Maria
, Dores Jorge
, Borges Teresa
, Cardoso Helena
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...