Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0049ep100 | Adrenal medulla | ECE2017

Lung adenocarcinoma in a 34-year-old female SDHB asynptomatic mutation carrier – case report

Matos Maria Joao , Costa Claudia , Santos Ana Paula , Teixeira Manuel , Franco Carlos , Bento Joao , Azevedo Isabel , Dias Susana , Sampaio Ines Lucena , Cunha Ana Luisa , Torres Isabel

Introduction: Patients with germline mutations in one of the succinate dehydrogenase (SDH) genes are at substantially increased risk of developing paragangliomas (PGL) and pheochromocytomas (PCC). Mutations in SDHB are the most commonly found gene mutations in PC/PGL and are associated with younger ages at presentation, higher rates of metastases and poorer prognosis. Although familial PGL syndromes were initially thought to predispose only for PCC and PGL, other tumor types s...

ea0022p226 | Clinical case reports and clinical practice | ECE2010

Pancreatic graft arterial thrombosis after coronary artery catheterization - an unusual case of pancreas allograft rejection

Silva Ana Maia , Martins La Salete , Dias Leonidio , Henriques Antonio Castro , Giestas Anabela , Teixeira Sofia , Oliveira Filomena , Almeida Paulo , Machado Rui , Freitas Claudia , Almeida Rui , Teixeira Manuel , Dores Jorge

Introduction: Successful whole pancreas transplantation is at the present the most effective treatment for type 1 diabetes but allograft dysfunction related with infection, vascular compromise or immunological causes are not uncommon. Usually, graft vascular thrombosis or haemorrhage, as well as infectious complications are responsible for early pancreas graft failure; late cases occur more frequently by immunological causes, either allograft rejection or recurrence of the &#1...