Endocrine Abstracts

Objective: Patients with adrenal insufficiency (AI) have been found to have increased cardiovascular morbidity, partly associated with nonphysiologic glucocorticoid replacement.Design: We included two separate cohorts (cohort 1 and 2) of patients with chronic primary and secondary AI under standard replacement therapy and compared them to two age- and sex-matched population-based studies (SHIP-TREND/DEGS). Patient cohort 1 comprised 389 individuals asses...

The differential diagnosis between arginine vasopressin deficiency (AVP-D), known as central diabetes insipidus, and primary polydipsia (PP) is challenging. Psychopathologic findings are often used as a hallmark for diagnosing PP; thus. Yet, psychopathologic characteristics are barely assessed in patients with AVP-D, and to date, no data exist comparing AVP-D and PP with regard to these features. Therefore, in this study, we aimed to compare levels of anxiety, depression, alex...

The adrenal cortex synthesizes glucocorticoids that are essential for metabolic homeostasis and modulation of immune responsiveness. Glucocorticoid-producing cells, located in the zona fasciculata (zF), constitute the critical effector of the HPA axis that serves to mediate the mammalian stress response. Dysregulation of glucocorticoid function results in significant morbidity with complete deficiency being incompatible with life. While the zF is composed of heterogenous cell ...

Background: Current guidelines recommend adrenal vein sampling (AVS) for the identification of surgically treatable unilateral disease among patients with primary aldosteronism (PA). The cortisol-derived selectivity index (SI) is currently used to assess the success (or selectivity) of adrenal vein catheterization during AVS. However, AVS studies can be non-selective in many cases.Aim: To examine whether the use of SI derived either from 11-deoxycortisol...

Background: It is well established that life-long follow-up is required for patients with hereditary pheochromocytomas and paragangliomas (PPGLs), due to the potential of developing recurrent disease. However, whether follow-up of patients with sporadic PPGLs is necessary, remains unclear.Aims: To examine the prevalence and predictors of recurrent disease in patients with sporadic PPGLs.Materials and method: This multicenter study included retrospective ...

Introduction: Primary aldosteronism (PA) is the most common surgically curable cause for endocrine hypertension. Patients with unilateral aldosterone-producing adenoma undergo adrenalectomy (ADX). Clinical and biochemical outcome is assessed 6-12 months after ADX according to PASO consensus. To reduce unnecessary follow-up visits and change in medication for diagnostic purposes for potentially cured patients after ADX, a prediction tool is needed. Previous research had shown g...

Background: Primary adrenal insufficiency (PAI) has been associated with increased risk of infection, adrenal crises and a higher mortality rate. This is caused by altered circadian cortisol profiles, which ultimately lead to immune cell dysregulation. In this study, we aim to characterize differences in immunophenotype of PAI patients of three different etiologies.Methods: Cross-sectional single center study including 28 patients with congenital adrenal...

Background: Primary Aldosteronism (PA) is the commonest curable cause of hypertension. Whole exome sequencing (WES) of an aldosterone producing adenoma from a 46-year-old man with resistant hypertension revealed a novel somatic mutation (Val380Asp) of the single transmembrane domain of Cell Adhesion Molecule-1 (CADM1). A Gly379Asp mutation was identified by WES of a PA patient in Munich. Both patients were cured of hypertension by adrenalectomy.Method: A...

Background: PA is the commonest curable cause of hypertension. Whole exome sequencing (WES) in 2011 and 2013 identified common somatic mutations in genes regulating membrane polarisation in 60-80% of aldosterone-producing adenomas (APA). In search of the missing variants, we undertook further WES. One APA from a 46-year-old gentleman revealed a novel somatic mutation (Val380Asp); which introduced a charged amino-acid into the single transmembrane domain of Cell Adhesion Molecu...

Protein Kinase A (PKA) consists of two catalytic and two regulatory subunits with several isoforms (Cα,β,γ, RIα,IIα,Iβ,IIβ). In 30–40% of cortisol-producing adrenocortical adenomas (CPA) heterozygous activating somatic mutations in the catalytic subunit α (Cα) of PKA have been found. Previous reports found strikingly reduced levels of RIIβ in CPA compared to other adrenocortical tumors. Here, we investigated the correlatio...