Endocrine Abstracts

Visinin-like 1 (VSNL1) is upregulated in aldosterone-producing adenomas (APA) compared to normal adrenals. We demonstrate that VSNL1 overexpression in adrenocortical carcinoma cells (NCI H295R) upregulates basal and angiotensin II (Ang II)-stimulated CYP11B2 gene expression 3.2- and 1.5-fold, respectively. Conversely, silencing VSNL1 by RNA interference decreases Ang II-stimulated CYP11B2 expression and aldosterone secretion by 41 and 34.5%, respectively. Mutations in the pota...

Heparan sulphate (HS) is a highly complex linear polysaccharide found attached to core proteins both on the cell surface and in the extracellular matrix. Newly synthesized HS chains are modified by a family of enzymes, many of which have multiple isoforms with differing substrate preferences. These modifications include the addition of sulphate groups at up to four positions on each disaccharide unit. The pattern of modifications a HS saccharide undergoes alters its structure,...

Objective: Primary aldosteronism (PA) is the most frequent cause of secondary hypertension. According to the Endocrine Society Guidelines, up to 50% of hypertensive patients should be screened for PA, using the aldosterone to renin (or plasma renin activity (PRA)) ratio (AARR and ARR respectively). The automated Diasorin LIAISON chemiluminescent immunoassay for renin and aldosterone measurement became available and in many laboratories is currently used instead of the classica...

Primary Aldosteronism (PA) is the most frequent cause of secondary hypertension and patients display an increased prevalence of cardiovascular events compared to essential hypertensives. To date, three familial forms of PA have been described and termed, familial hyperaldosteronism types I, II and III (FH-I to -III). The aim of this study was to investigate the prevalence and clinical characteristics of the three forms of FH in a large population of PA patients. Three hundred ...

Diagnosis of primary aldosteronism (PA) is made by screening, confirmation testing and subtype diagnosis (CT scan and adrenal vein sampling, AVS). However, some tests are costly and unavailable in most hospitals. We evaluated the role of serum 18-hydroxycorticosterone (s18OHB) and urinary and serum 18-hydroxycortisol (u and s18OHF) and 18-oxocortisol (u and s18oxoF) in the diagnosis of PA and its subtypes, aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia (...

Primary Aldosteronism (PA) is the most frequent cause of endocrine hypertension. Three forms of familial hyperaldosteronism (FH) have been described, named FH-I to -III. Recently, a mutation of KCNJ5 has been shown to be associated with FH-III, whereas the cause of FH-II is still unknown. In this study we searched for mutations in KCNJ5 in 46 patients from 21 families with FH, in which FH-I was excluded. We identified a new germline G151E mutation in two PA affected subjects f...

Introduction: Sarcoidosis is a systemic disease of unknown aetiology, characterized by non-caseified granulomatous reaction that can involve multiple organs. The disease typically presents with pulmonary infiltrates, bilateral hilar and mediastinal lymphadenopathy and uveitis, but may also less frequently affect other organs, including the hypothalamic-pituitary axis. Malignancy rates in sarcoidosis patients have been reported as 1 to 2%1,2, chronic inflammation bei...