Endocrine Abstracts

Background: A diagnosis of Addison’s disease means lifelong dependence on daily glucocorticoid and mineralocorticoid therapy and is associated with increased morbidity and mortality, as well as a risk of unexpected adrenal crisis. We wished to explore whether immunomodulatory therapy at an early stage of autoimmune Addison’s disease could lead to preservation or improvement in adrenal steroidogenic function.Design: We conducted an open-label, p...

Introduction: A unique variant of familial glucocorticoid deficiency (FGD) exists in the Irish travelling community, a genetically isolated population with high levels of consanguinity. Affected children develop hypocortisolaemia and raised ACTH but retain normal renin and aldosterone levels. Children also have short stature, evidence of increased chromosomal breakage and natural killer cell deficiency.Methods: We sought areas of homozygosity common to a...

Adipose tissue produces several hormones and cytokines termed ‘adipokines’ that have widespread effects on carbohydrate and lipid metabolism. They appear to play an important role in the pathogenesis of insulin resistance, diabetes, and atherosclerosis. Chemerin is a novel adipokine, highly expressed in obese, insulin-resistant subjects. Polycystic ovary syndrome (PCOS) is associated with insulin resistance and obesity. We assessed chemerin levels in sera and adipose...

Orexin-A and orexin-B orchestrate their diverse central and peripheral effects via two G-protein coupled receptors, OX1R and OX2R, which activate multiple G-proteins. They are involved in a host of physiological processes including, steroidogenesis, appetite control and energy regulation. Whilst some signalling mechanisms have been proposed for individual recombinant orexin receptors in generic mammalian cell types, it is clear that the peripheral effects of orexin are spatial...

Gsα is a ubiquitously expressed G protein α-subunit that couples receptors to adenylyl cyclase and cAMP generation. In patients with Albright hereditary osteodystrophy (AHO), heterozygous Gsα mutations only lead to obesity when present on the maternal allele. Similarly, mice with heterozygous germline Gsα mutations on the maternal allele develop severe obesity and insulin resistance with reduced energy expenditure relative t...

CRF mediates numerous complementary stress-related endocrine (HPA), autonomic and behavioral responses. CRF antagonists block many stress-induced responses in experimental animals. Furthermore, perturbations of the CRF system or HPA have been reported in human affective disorders. CRF acts through two Class B G protein coupled receptors derived from two genes, which have alternative splice variants and distinct expression patterns. Mice null for CRF-R1 exhibit reduced basal an...

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...

Objective: At present, there are no studies in which authors report the use of cardiac magnetic resonance imaging (CMR) to evaluate the differences in myocardial strain between patients with aldosterone-producing adenomas (APAs) and those with idiopathic hyperaldosteronism (IHA) or the improvement in myocardial strain after treatment.Methods: In this study, 71 patients with APA and 51 patients with IHA were prospectively enrolled from the Department of E...

Endocrine-Related Cancer, 2019, 27(2): 81–95 (DOI: https://doi.org/10.1530/ERC-19-0095)...

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...