ea0056gp16 | Adrenal Case reports | ECE2018
Diaz Marta Moron
, Cortes Mauro Boronat
, Martin Juan Luis Afonso
, Moujir Carolina Fernandez-Trujillo
, Lleo Ana Maria Gonzalez
, Gonzalez Adriana Ibarra
, Martin Nuria Perez
, Mogollon Francisco Javier Novoa
Introduction: Most of pheochromocytomas (PCC) and paragangliomas (PGL) are sporadic. However, up to 40% of them have an inherited origin due to germline mutations in at least 15 known PCC/PGL genes, being the VHL and SDHx genes the ones most frequently affected. The fumarate hydratase (FH) is a Krebs cycle enzyme encoded by the FH gene.Its inactivating mutations increase intracellular levels of fumarate, leading to tissular pseudohypoxia and transcription of genes involv...