Endocrine Abstracts

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 ...

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...

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...

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...

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...

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...

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...

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...