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...

ea0020p2 | Adrenal | ECE2009

Von-Hippel Lindau disease and pheochromocytoma – case report

Daniel Silva Vaz J , Queiroz E , Lima Jorge Dores

Aims: VHL disease is an autossomal dominant syndrome that affects one in every 36 000 live births. The diagnosis is based on clinical criteria and the detection of the mutation on VHL gene. Most cases are diagnosed during the 2nd decade of life; this syndrome includes pheochromocytomas with the following characteristics: extraadrenal location, bilaterality, multifocal lesions, age of onset <30 years and discrete manifestations of catecholamine overproduction.<p class="...

ea0056ep5 | Adrenal and Neuroendocrine Tumours | ECE2018

Isolated pheochromocytoma associated with mutation in the SDHAF2 (SDH5) gene: rare and challenging clinical case

Oliveira Sofia Castro , Santos Ana Paula , Goncalves Ligia , Ferreira Goncalo , Lima Jorge , Teixeira Manuel , Torres Isabel

Introduction: Pheochromocytomas/paragangliomas are rare neuroendocrine tumors. Although mostly sporadic, about 1/3 of the cases correspond to inherited autosomal dominant syndromes, often associated with germline mutations of the SDHD, SDHC and SDHB genes. The association with the SDHAF2(SDH5) gene has been recently discovered, with only few cases published worldwide, and it presents as a paraganglioma of the head and neck, without previous known description of other locations...

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...

ea0073ep13 | Adrenal and Cardiovascular Endocrinology | ECE2021

Pheochromocytoma in pregnancy: the need for a multidisciplinary approach

Dias Daniela , Catarina Matos Ana , Inês Sapinho , Coelho Catarina , Borges Augusta , Baleiras Carla , Lima Jorge , Gomes Paulo , Morais Suzette , Cardoso Osvaldo , Lucas Mafalda , Leichsenring Carlos , Pinheiro Nuno

IntroductionPheochromocytoma(PHEO) occurs in pregnancy with an estimated incidence of 0.007%. Its rarity and overlapping presentation with other pregnancy-related hypertensive disorders make the diagnosis really challenging. If left unrecognized, may result in increased maternal and fetal mortality. There are no guidelines on approaching PHEO during pregnancy. This case highlights the difficulties encountered in managing this condition in pregnancy.<...

ea0035p1149 | Thyroid Cancer | ECE2014

Prognostic significance of TERT promoter mutations in follicular cell-derived thyroid carcinomas

Melo Miguel , da Rocha Adriana Gaspar , Vinagre Joao , Batista Rui , Peixoto Joana , Celestino Ricardo , Salgado Catarina , Eloy Catarina , Lima Jorge , Amaro Teresina , Lobo Claudia , Moura Margarida , Cavaco Branca , Leite Valeriano , Cameselle-Teijeiro Jose Manuel , Carrilho Francisco , Carvalheiro Manuela , Maximo Valdemar , Sobrinho-Simoes Manuel , Soares Paula

Context: Telomerase promoter mutations (TERT) were recently described in follicular cell-derived thyroid carcinomas (FCDTC) and seem to be more prevalent in aggressive cancers.Objectives: We aimed to evaluate the frequency of TERT promoter mutations in thyroid lesions and to investigate the prognostic significance of such mutations in a large cohort of patients with differentiated thyroid carcinomas (DTC).<p class="abstext"...