Searchable abstracts of presentations at key conferences in endocrinology

ea0032oc4.5 | Adrenal | ECE2013

ESE Young Investigator Award

Oszwald Andrea , Fischer Evelyn , Bidlingmaier Martin , Pallauf Anna , Degenhart Christoph , Beuschlein Felix , Reincke Martin

Adrenal vein sampling (AVS) is a technically demanding procedure required for identification of suitable candidates for unilateral adrenalectomy in primary aldosteronism. Recently, somatic mutations in aldosterone producing adenomas (APA) have become a focus of research. We identified KCNJ5 K+-channel mutations in 34% of APAs, and more recently mutations in 2 ATPase family members in 11 and 6%. However, it is unclear whether steroid gradients during the AVS are infl...

ea0041gp109 | Endocrine Tumours | ECE2016

Expression and mutational status of USP8 in tumours causing ectopic Cushing’s syndrome

Perez-Rivas Luis Gustavo , Theodoropoulou Marily , Oszwald Andrea , Fazel Julia , Komada Masayuki , Kirchner Thomas , Beuschlein Felix , Reincke Martin

Introduction: Mutations activating USP8 have been detected in a high proportion of pituitary adenomas causing Cushing’s disease and have been linked to an increase of ACTH production in corticotroph cells. Whether USP8 mutations are involved in the tumorigenesis of the ectopic Cushing’s syndrome (ECS) caused by neuroendocrine tumors has not been studied.Patients and methods: In this work we evaluate the role of USP8 in a series of 17 t...