Endocrine Abstracts

Generalised oedema as a rare complication of insulin treatment in the absence of renal, hepatic or cardiovascular disease was first described by Leifer in 1928. The true incidence of insulin oedema in children with type 1 diabetes mellitus is unknown and since it was first reported in 1979, there have been only 12 reported cases worldwide. Insulin oedema has been described both in patients with newly diagnosed diabetes receiving insulin therapy for the first time and also in t...

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...

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 ...

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...