Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep26 | Adrenal and Cardiovascular Endocrinology | ECE2020

Genetic alterations and clinical features in 16 brazilian patients with pheochromocytomas and paragangliomas

Naliato Erika , Araujo Paula , Soares Paula , Lima Jorge , Lima Vinicius , Wo Julia , Sanchez Mirna , Carvalho Denise , Violante Alice

Introduction: Pheochromocytomasand paragangliomas are tumors derived from chromaffin cells which result from mutations of at least six different genes as autosomal dominant disorders.Aim: To evaluate the existence of correlations between genetic alterations and clinical data in 16 patients with pheochromocytomas and/or paragangliomas.Methods: From 2007 to 2009, 13 patients with pheochromocytoma [3 men, medium age 39 years (14&#8211...

ea0056ep12 | Adrenal and Neuroendocrine Tumours | ECE2018

The changing of clinical scenario in three consecutive generations of a Brazilian Family with Von Hippel-Lindau disease

Violante Alice , Lima Jorge , Soares Paula , Macedo Ana , Neto Silvio Cunha , Naliato Erika , Migowski Joao , Alecrim Amanda , Lima Vinicius , Carvalho Denise , Lourenco Delmar

Background: Von Hippel Lindau Disease (VHL) is an autosomal dominant inherited syndrome characterized by high susceptibility to the development of a wide spectrum of benign and malignant, endocrine and non-endocrine neoplasias in diverse organs of patients harboring a germline mutation in VHL tumor suppressor gene. The major clinical manifestations of VHL are brain, cerebellar and spinal cord hemangioblastoma, retinal angioma, pheochromocytoma, renal cell carcinoma an...