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Background: Germline mutations in SDHB, SDHC, and SDHD cause hereditary phaeochromocytoma and paraganglioma (PGL) syndromes. The genotype-phenotype correlation of these mutations and relationship to penetrance is poor. Our objective was to assess characteristics of patients with SDH mutations seen in our dedicated multidisciplinary clinic.Methods: A retrospective observational study of patients attending from May 2005 to May 2010, approved as an institut...

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ea0056oc12.5 | Novel aspects of puberty development and Cushing's disease | ECE2018

Diabetes mellitus and muscle weakness are independently associated with mortality in patients with Cushing’s syndrome. Data from ERCUSYN

Valassi Elena , Tabarin Antoine , Brue Thierry , Feelders Richard A , Reincke Martin , Neteia-Maier Romana , Toth Miklos , Yaneva Maria , Webb Susan M , Tsagarakis Stylianos , Chanson Philippe , Pfeifer Marija , Droste Michael , Komerdus Irina , Kastelan Darko , Maiter Dominique , Chabre Olivier , Franz Holger , Santos Alicia , Strasburger Christian J , Trainer Peter J , Newell-Price John , Ragnarsson Oskar

Background: Patients with active Cushings syndrome (CS) have increased mortality.Aims: Evaluate cause of death in a large cohort of CS patients, and establish factors associated with increased mortality.Methods: We analysed 1514 patients included in the European Registry on Cushings syndrome (ERCUSYN): 1022 (68%) had pituitary-dependent CS (PIT-CS), 379 (25%) adrenal-dependent CS (ADR-CS), 71 (5%) had an ectopic source ...

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Endocrine Abstracts

Clinical and biochemical characteristics of succinate dehydrogenase (SDH) mutation carriers

Diabetes mellitus and muscle weakness are independently associated with mortality in patients with Cushing’s syndrome. Data from ERCUSYN

BiosciAbstracts