Endocrine Abstracts

Background: Unilateral primary aldosteronism is the most common surgically correctable form of endocrine hypertension, usually diagnosed by adrenal vein sampling (AVS) or computed tomography (CT). We compared the outcomes of patients diagnosed by CT and AVS and determined if CT can reliably diagnose unilateral primary aldosteronism in young patients with an evident phenotype.Methods: Patient data were obtained from 18 internationally distributed centres ...

Background: Steroid profiling by mass spectrometry (MS) provided novel insights into the pathogenesis of adrenocortical tumors and hypercortisolism. The aims of the study were (I) to analyze the steroid profiling by liquid chromatography-tandem MS (LC-MS/MS) in a large cohort of patients with adrenal incidentalomas and (II) to investigate the relationship between steroid profile and clinical outcomes.Methods: We included 307 patients with mono- and bilat...

Protein Kinase A (PKA) consists of two catalytic and two regulatory subunits with several isoforms (Cα, β, γ and RIα, IIα, Iβ, IIβ, respectively). Type II regulatory subunits are phosphorylated by PKA in their inhibitory sites, while type I are not. Somatic activating mutations in the gene encoding the catalytic subunit α (Cα) of PKA (PRKACA) have been found in 30–40% of cortisol-producing adrenocortical adenomas (CPA). We rece...

Introduction: Patients with chronic primary adrenal insufficiency (PAI) depend on lifelong gluco- (GC) and mineralocorticoid (MC) replacement therapy. Reduced subjective well-being is however often described by these patients in absence of clinical or laboratory abnormalities and is thus a strong indicator of the gap between the concept of adequate hormone substitution and patients’ requirements. The aim of this study was to investigate the potential role of 23...

Background: ARMC5 (armadillo repeat containing 5) has been identified as the gene responsible for PBMAH (Primary Bilateral Macronodular Adrenal Hyperplasia). ARMC5 inactivating mutations are reported in 20 to 25% of PBMAH patients. ARMC5, is considered as a tumor suppressor gene controlling apoptosis and regulating steroidogenesis. The mechanisms of action of ARMC5 are unknown. The structure of the ARMC5 protein contains ARM repeats and a BT...