Searchable abstracts of presentations at key conferences in endocrinology

ea0081p272 | Adrenal and Cardiovascular Endocrinology | ECE2022

Characterization of molecular pathway alterations in Cushing’s Syndrome

Vetrivel Sharmilee , Zhang Ru , Khan Ali , Osswald Andrea , Reincke Martin , Sbieria Silviu , Riester Anna

Context: Transcriptomic based characterization of signaling pathways in the adrenals of different subtypes of Cushing’s syndrome.Patients: For preliminary NGS analyses, a total of 27 adrenal samples were used. The cohort consisted of the following patient groups: Cortisol producing adenoma (CPA, n=9), primary bilateral macronodular adrenal hyperplasia (PBMAH, n=10). The adjacent normal adrenal tissue from pheochromocytoma patients ...

ea0075a17 | Adrenal gland | EYES2021

Characterization of transcriptional and miRNA based dysregulations in Cushing’s syndrome

Vetrivel Sharmilee , Zhang Ru , Osswald Andrea , Engel Mareen , Beuschlein Felix , Chen Alon , Sbiera Silviu , Reincke Martin , Riester Anna

Introduction: Transcriptional regulation of gene expression by miRNAs is critical for the fine-tuning of adrenal stress response. However, its role in hypercortisolism has not been explored well. The study addresses this gap using adrenal samples of 3 patient groups from the German Cushing’s registry: Cortisol-Producing-Adenoma (CPA), Primary Bilateral Adrenal Hyperplasia (PBMAH) and controls (adrenal samples of patients with pheochromocytoma).Metho...

ea0081p20 | Adrenal and Cardiovascular Endocrinology | ECE2022

Characterization of adrenal miRNA-based dysregulations in Cushing’s Syndrome

Zhang Ru , Vetrivel Sharmilee , Watts Deepika , Osswald Andrea , Engel Mareen , Beuschlein Felix , Chen Alon , Sbiera Silviu , Wielockx Ben , Reincke Martin , Riester Anna

Introduction: Transcriptional regulation of gene expression by miRNAs is critical for the fine-tuning of stress response. However, its role in hypercortisolism has not been explored well. After exploring circulating miRNAs in Cushing’ Syndrome (CS) as biomarkers our aim was to investigate their origin and their role in adrenal tissue.Methods: Next generation sequencing (NGS) based miRNA profiling was performed in adrenal samples from patients of Ger...

ea0041oc7.3 | Cardiovascular endocrinology | ECE2016

Muscle strength in Cushing’s syndrome: cross-sectional evaluation of the German Cushing’s registry

Berr Christina M , Quinkler Marcus , Stieg Mareike , Deutschbein Timo , Osswald Andrea , Schmidmaier Ralf , Reisch Nicole , Ritzel Katrin , Blaser Rainer , Fassnacht Martin , Stalla Gunter , Beuschlein Felix , Reincke Martin

Background: Endogenous Cushing’s syndrome (CS) is rare with an estimated yearly incidence of 1–3 patients/million. CS describes a group of diseases that have in common an excess secretion of glucocorticoids which results in a characteristic clinical phenotype. Severe courses of Cushing’s syndrome are characterized by a break-down of protein catabolism translating into clinical consequences including muscle weakness. While remission of CS is achievable by surgica...

ea0075a22 | Adrenal gland | EYES2021

Steroid profiling using liquid chromatography mass spectrometry during adrenal vein sampling in patients with primary bilateral massive adrenal hyperplasia

Zhang Ru , Rubinstein German , Vetrivel Sharmilee , Vogel Frederick , Kroiss Matthias , Deniz Sinan , Osswald Andrea , Knosel Thomas , Kunz Sonja , Bidlingmaier Martin , Sbiera Silviu , Reincke Martin , Riester Anna

Background: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing’s syndrome. The clinical application of adrenal venous sampling (AVS) in diagnostic work-up for PBMAH is still controversially discussed. AVS might be useful in evaluating the predominant side and guiding the decision for unilateral adrenalectomy in PBMAH.Objectives: Our aim was to evaluate whether certain metabolites in AVS samp...

ea0035p7 | Adrenal cortex | ECE2014

Favorable long-term outcome of bilateral adrenalectomy in Cushing's disease

Osswald Andrea , Plomer Eva , Dimopoulou Christina , Milian Monika , Blaser Rainer , Ritzel Katrin , Mickisch Anne , Knerr Ferengis , Stanojevic Milan , Hallfeldt Klaus , Schopohl Jochen , Kuhn Klaus A , Stalla Gunter , Beuschlein Felix , Reincke Martin

Objective: Bilateral adrenalectomy (BADX) is an important treatment option for patients with Cushing’s syndrome (CS). The outcome of this procedure has not been studied well.The aim was to analyze long-term outcome of CS patients treated with BADX.Design: Fifty patients with BADX treated since 1990 in two German centers were identified. 34 patients had Cushing’s disease (CD), nine ectopic Cushing-syndrome (ECS), and seven...

ea0070yi3 | Young Investigators | ECE2020

RNA-sequencing of adrenocortical tumors reveals novel pathogenetic insights

Di Dalmazi Guido , Altieri Barbara , Scholz Claus , Sbiera Silviu , Luconi Michaela , Waldmann Jens , Kastelan Darko , Ceccato Filippo , Chiodini Iacopo , Arnaldi Giorgio , Osswald Andrea , Reincke Martin , Beuschlein Felix , Sauer Sascha , Fassnacht Martin , Appenzeller Silke , Ronchi Cristina

Background: Genetic alterations underlying the pathogenesis of autonomous cortisol secretion and early adrenocortical tumorigenesis have been identified in 40% of adrenocortical tumors (ACT). Nonetheless, the molecular events leading to development of ACT and steroid secretion remain obscure for a large proportion of patients.Aim: Aims of our study were to investigate the relationship between transcriptome profile and genetic background in a large series...

ea0035oc2.2 | Adrenal clinical | ECE2014

Constitutive activation of PRKACA in adrenal Cushing’s syndrome

Beuschlein Felix , Fassnacht Martin , Assie Guilaume , Calebiro Davide , Stratakis Constantine A. , Osswald Andrea , Ronchi Cristina L. , Wieland Thomas , Sbiera Silviu , Faucz Fabio R. , Schaak Katrin , Schmittfull Anett , Kisker Caroline , Diener Susanne , Meitinger Thomas , Lohse Martin J. , Reincke Martin , Bertherat Jerome , Strom Tim M. , Allolio Bruno

Background and Methods: Corticotropin-independent Cushing’s syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol producing adrenal adenomas is not well understood. Therefore, exome sequencing was performed in 10 cortisol-producing adenomas and recurrent mutations in candidate genes were evaluated in additional 171 patients with adrenocortical tumors. In addition, genome-wide copy number analysis was performed in 35 pati...