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...