Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep609 | Endocrine tumours and neoplasia | ECE2016

Craniopharyngioma registry for adult patients, an initiative of the pituitary workgroup of the DGE

Mende Klaus Christian , Kopczak Anna , Deutschbein Timo , Droste Michael , Honegger Jurgen , Stalla Gunther , Muller Herrmann , Petersenn Stephan , Flitsch Jorg

Introduction and Objective: Adult craniopharyngioma as a rare neoplasm of the central nervous system is still very poorly understood. The clinical implications for affected patients are numerous, ranging from endocrine dysfunction to visual loss and neurological impairment. Although the progress of this tumor entity is slow by nature, affected patients often suffer from multiple symptoms even after successful treatment with a strong impact on their individual quality of life. ...

ea0016s24.4 | State of the art in the therapy of pituitary disease | ECE2008

Development of a disease-related QoL-questionnaire for Cushing’s disease

Webb Susan M , Badia Xavier , Barahona Maria-Jose , Colao Annamaria , Strasburger Christian J , Tabarin Antoine , van Aken Maarten , Pivonello Rosario , Stalla Gunther , Lamberts Steven W J , Glusman Joan

Chronic exposure to hypercortisolism significantly impacts on patient’s health and health-related quality of life (HRQoL). We developed a disease-generated questio-nnaire to evaluate HRQoL in Cushing’s syndrome (CS) (CushingQoL); in 125 (104 females) patients recruited in Spain, France, Germany, The Netherlands and Italy, clinical and hormonal data were collected and correlated with results of the generic SF-36 questionnaire, a question on self-perceived general heal...

ea0014p559 | (1) | ECE2007

Development and validation of a questionnaire to evaluate health-related quality of life in patients with Cushing’s syndrome

Webb Susan M , Badia Xavier , Barahona Maria- Jose , Colao Annamaria , Strasburger Christian J , Tabarin Antoine , Aken MO van , Pivonello Rosario , Stalla Gunther , Chabre O , Lamberts Steven WJ , Glusman Joan E

Chronic exposure to hypercortisolism has a significant impact on patient’s health and Health-Related Quality of Life (HRQoL), as demonstrated with generic questionnaires. Objective: Develop and validate a disease-generated questionnaire to evaluate HRQoL in patients with Cushing’s syndrome-CS- (Cushing QoL). Methods: After a literature review, interviews with expert endocrinologists and 10 patients identified HRQoL domains and clinical aspects of the disease; an anal...

ea0037oc12.2 | Pituitary – Clinical | ECE2015

The ubiquitin-specific protease 8 gene is frequently mutated in adenomas causing Cushing's disease

Rivas Luis Gustavo Perez , Theodoropoulou Marily , Ferrau Francesco , Nusser Clara , Kawaguchi Kohei , Stratakis Constantine , Faucz Fabio Rueda , Wildemberg Luiz Eduardo , Assie Guillaume , Beschorner Rudi , Stalla Gunther , Buchfelder Michael , Popovic Vera , Honneger Jurgen , Bertherat Jerome , Gadelha Monica R , Beuschlein Felix , Komada Masayuki , Korbonits Marta , Reincke Martin

We have recently reported that somatic mutations in the ubiquitin-specific protease 8 (USP8) are present in corticotropinomas of patients with Cushing’s disease and that these mutations reduced the interaction with 14-3-3. Mutant USP8 exhibited higher deubiquitination activity and potentiated EGFR-induced POMC expression (Reincke et al., Nat Genet 2014). To further study the prevalence of these mutations, we have analyzed 134 ACTH-producing corticotropin...

ea0056oc11.4 | Clinical practice in endocrine tumours: combining conventional and molecular features | ECE2018

Update in the genetic landscape of Cushing’s Disease: TP53 and a new deubiquitinase in spotlight

Sbiera Silviu , Popov Nikita , Weigand Isabel , Flitsch Jorg , Perez-Rivas Luis Gustavo , Taranets Lyudmyla , Graf Elisabeth , Monoranu Camelia-Maria , Saeger Wolfgang , Hagel Christian , Theodoropoulou Marily , Stalla Gunther , Herterich Sabine , Ronchi Cristina L. , Deutschbein Timo , Reincke Martin , Strom Tim M. , Fassnacht Martin

Introduction: Cushing’s disease (CD) is caused by pituitary tumors hypersecreting adrenocorticotropin (ACTH). Until now somatic mutations in the 14-3-3 binding domain of Ubiquitin Specific Peptidase 8 gene (USP8) were the only recurring, driver mutations and were described in about 40% of the 446 CD samples that have been analysed wordwide. We wanted to assess if other driver mutations might be the pathogenetic cause of CD in those tumors without USP8 mu...