Endocrine Abstracts

Objective: We reported 3 patients with primary aldosteronism who presented at times of high plasma LH, and had somatic CTNNB1 mutations causing ˜100-fold elevation of LHCGR in their APAs (Teo et al. NEJM 2015). Subsequently we identified 4 further patients, but the association with pregnancy was not found by others. Whole exome sequencing (WES) of an APA diagnosed at onset of puberty suggests an explanation.Method: WES of tumour and blood w...

Background: Inappropriately high aldosterone in patients with primary hyperaldosteronism (PHA) is due to increased aldosterone synthase (CYP11B2) activity. Selective in vivo imaging of overexpressed CYP11B2 in adrenals with positron emission tomography (PET) has not yet been achieved due to close homology of enzymes involved in aldosterone and cortisol (CYP11B1) synthesis.Aim: Synthesize a fluorine-18 labelled highly selective CYP11B2 inhibitor, [18...

Most aldosterone-producing adenomas (APAs) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell-clusters of normal adrenals could suggest the existence of co-driver mutations which influence the development or phenotype of APAs [1]. Gain-of-function mutations in both CTNNB1 and the G-protein coupled receptor GNA11 were found by whole exome sequencing in 3/10 APAs. Further sequencing of...

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...

Introduction: Simulation via Instant Messaging – Birmingham Advance (SIMBA) is a simulation-based training model shown to have increased clinicians’ confidence in managing cases in diabetes and endocrinology, as well as sustained clinical knowledge.1 Traditional simulation models have typically focussed on a specific group of healthcare professionals. We evaluated if there is a difference in performance between different training groups during SIMBA.<p...

Background: Inappropriately high aldosterone in patients with primary hyperaldosteronism (PHA) is due to increased aldosterone synthase (CYP11B2) activity. Selective in vivo imaging of overexpressed CYP11B2 in adrenals with positron emission tomography (PET) has not yet been achieved due to close homology of enzymes involved in aldosterone and cortisol (CYP11B1) synthesis.Aim: Synthesize a fluorine-18 labelled highly selective CYP11B2 inhibitor,...

Background: Adipocyte cells could produce numerous extracellular vesicles and orchestrate the balance of endocrinological system. Polycystic ovary syndrome (PCOS) is a refractory reproductive disease and also a kind of endocrine and metabolic disease. The aim of the study was to explore the effects of adipocyte-derived extracellular vesicles-miR-26b on cumulus cells (CCs) and development of PCOS.Methods: The crosstalk mediated by extracellular vesicle-mi...

Corticotropin-releasing hormone (CRH), a 41-aminoacid peptide that is mainly produced in the hypothalamic paraventricular nucleus (PVN), plays a crucial role in stress response and is considered to be the central driving force in the activity of hypothalamic–pituitary–adrenal (HPA) axis. Previous studies of neuronal input to the PVN were limited by experimental techniques and could not be restricted by a single neuron type. In the present study, by using a novel defi...

Background: Pheochromocytomas and paragangliomas (PPGLs) are a group of rare neuroendocrine tumors. Dysglycemia has been observed in patients with PPGLs in some small case series. However, few large studies, and none in China, have described the outcomes of dysglycemia after resection, and the factors associated with the development and resolution of dysglycemia in patients with PPGLs.Methods: We retrospectively analyzed the clinical data of consecutive ...

Annexin 1 (ANXA1) is a 37 Kd member of the annexin family of Ca2+− and phospholipid binding proteins that has been well demonstrated to act as a mediator of glucocorticoid action in inflammation and in the control of anterior pituitary hormone release. ANXA1 is also proapoptotic and has been identified as a mediator of apoptotic cell engulfment (Solito et al. 2003 FASEB J 17:1544; Arur et al. 2003 Dev Cell 4:587). Using yeast two hybrid screening...