Endocrine Abstracts

Introduction: Pheochromocytomas(PC)are rare catecholamine-producing neuroendocrine tumors. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial PC and paragangliomas (PGL) with an autosomal dominant pattern of inheritance and an overall frequency estimated at 1.9%. Other endocrine and non endocrine tumors can be associated to germline MAX mutations.Case presentation: We report a case of a 37 years old male patient,...

Background: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism with an incidence of one per million in the general population. It is characterized by marked elevation of triglyceride and chylomicron levels, resulting in lipemic plasma and recurrent attacks of acute pancreatitis, eruptive xanthoma, hepatosplenomegaly, and lipemia retinalis.Case Presentation: We report the case of an 18 years old patient, an only son, from a can...