Endocrine Abstracts

Background: Recommendations for the diagnosis of phaeochromocytoma are based on individual institutional experience but have traditionally advocated concurrent measurement of urine and plasma catecholamines. However, reports of phaeochromocytoma presenting with normal catecholamines suggest that this practice is insufficiently sensitive. In phaeochromocytoma there is an increased output of metadrenaline metabolites with a disproprtionate increase in the unconjugated form and e...

Phaeochromocytomas (PHAEO)/paragangliomas (PGL) are neuro-endocrine tumours. They may present sporadically or as the primary abnormality in a number of familial syndromes. Advances in molecular genetics have led to the identification of several PHAEO/PGL predisposing genes including VHL, NF1 and RET. Mutations in the genes encoding the subunits of Succinate Dehydrogenase (SDH) have also been reported. We describe the phenotype of a cohort of patients with a Succinate Dehydroge...