Endocrine Abstracts

Differential diagnosis between bilateral adrenal hyperplasia (BAH) and aldosterone producing adenoma (APA) in aldosteronism remains challenging in many cases due to the high prevalence of incidentalomas during imaging techniques, the limited sensitivity of orthostatic testing and the technical difficulties of adrenal vein sampling (AVS).We investigated circadian variation in salivary aldosterone (SA) in patients with APA (n=22) and BAH (n=2...

To date, the in depth analysis of the key molecular mechanisms involved in functional autonomy and tumor formation in aldosterone producing adenomas has been hampered by the rarity of the disease and the lack of adequate tumor cell lines. Herein, we cultivated a primary cell culture of an aldosterone producing adenoma taken from a 40 year old male patient with a left sided adrenal tumor mass. The cells have been passaged 24 times and still continue to grow after nearly 11 mont...

Due to its rarity, initial endocrine abnormalities in acromegaly are difficult to investigate in a large cohort, especially with respect to cofounding variables. We searched the German Acromegaly Register for data on the first presentation of patients with acromegaly.Up to November 2005, 1485 patients with acromegaly had been entered into the database. Male patients demonstrated significantly higher random GH (21.0 (0.2–620.0) ng/ml, median (range))...

Introduction: Primary aldosteronism (PA) is the most frequent form of endocrine hypertension and is commonly caused by an aldosterone producing adenoma (APA). Germline and somatic mutations in the KCNJ5 gene have been found in up to 40% of APAs and demonstrated to play a crucial role in the pathophysiology of PA.Aim: Here we characterize and investigate the effects of the most common KCNJ5 mutations on cellular death mechanisms based on...

Patients with Cushing’s syndrome have a poor quality of sleep. However, little is known about their timing of sleep as regulated by the circadian clock, the so called-chronotype. Considering that patients with Cushing’s syndrome lose their rhythmic circadian cortisol secretion and that corticosteroids act as synchronizer of the circadian clock in cells, aim of the study was to determine whether patients with Cushing’s syndrome alter the timing of their sleep com...

Context: Patients with primary bilateral macronodular adrenocortical hyperplasia (PBMAH) usually present with bilateral benign adrenocortical macronodules at imaging and variable levels of cortisol excess. There is anecdotal evidence that, besides cortisol, other adrenal steroids, like mineralocorticoids, can be oversecreted.Objective: To assess the prevalence, clinical, biochemical characteristics and imaging features of aldosterone excess leading to pr...

Background: Cushing’s syndrome (CS) is a rare but very severe condition with high morbidity and mortality. Patients are often diagnosed late in the course of the disease, many years after onset of symptoms. New approaches like extended screening of at risk populations, alternative biomarkers and clinical scores have been developed to improve diagnostic accuracy. However, there is still a debate, whether certain patient populations should be screened for CS outside the fra...

Background: Cyclic Cushing’s syndrome (cCS) is a sub-entity of Cushing’s syndrome (CS) associated with diagnostic and therapeutic challenges. It describes a condition, in which phases of clear-cut biochemical hypercortisolism are followed by spontaneous troughs of normal or subnormal cortisol secretion. We conducted the first systematic literature review to identify common features of cCS.Methods: We searched MEDLINE (via PubMed) for eligible s...

Background: Aldosterone-producing adenomas (APA) are a major cause of primary aldosteronism. Somatic mutations explain the excess aldosterone production in the majority of patients with APA with mutations in the potassium channel KCNJ5 the most prevalent. In contrast, mechanisms driving cell proliferation are largely unresolved.Objective: To identify genes that modulate cell growth in APAs.Methods: Quantitative transcripto...

Corticotrophin-releasing hormone (CRH) stimulation test is used in the differential diagnosis of Cushing’s syndrome. Cushing’s disease tumours carry somatic driver activating mutations in the ubiquitin-specific-protease 8 (USP8) gene in almost half of the cases. The aim of the present study was to examine whether the USP8 mutational status in Cushing’s disease tumours influences the response to the CRH stimulation test. We did a monocentric, re...