Searchable abstracts of presentations at key conferences in endocrinology

ea0026s2.1 | Controversies in hyperaldosteronism | ECE2011

Controversies in hyperaldosteronism: whom and how to screen

Mulatero P , Bertello C , Monticone S , Veglio F

Primary hyperaldosteronism (PA) is the most frequent cause of secondary hypertension. PA detection is of particular importance, because it provides opportunity for targeted treatment (surgical for APA and medical for BAH), and because it has been demonstrated that PA patients are more prone to cardiovascular events and target organ damage than essential hypertensives. The Endocrine Society Guidelines stated the categories of hypertensive patients with relatively high prevalenc...

ea0029s48.3 | Pathogenesis of primary aldosteronism | ICEECE2012

Potassium channels in primary aldosteronism

Warth R. , Bandulik S. , Penton D. , Tauber P. , Zennaro M. , Mulatero P. , Beuschlein F. , Barhanin J.

Potassium channels regulate the membrane voltage of aldosterone-producing glomerulosa cells in the adrenal glands. They are required for the unique K+ sensitivity of these cells and are targets of angiotensin II signaling. Several K+ channels show high levels of expression in the adrenal cortex and are believed to be important for the control of hormone secretion, e.g. KCNJ5, TASK1, TASK3, KCNMA1, and KCNQ1.In a pioneering study, Li...

ea0029oc13.2 | Adrenal Basic | ICEECE2012

VSNL1 is upregulated in aldosterone producing adenomas with KCNJ5 mutations and protects from calcium-induced apoptosis

Monticone S. , Crudo V. , Burrello J. , Galmozzi M. , Warth R. , Veglio F. , Mulatero P. , Williams 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...

ea0029p49 | Adrenal cortex | ICEECE2012

Prevalence and Characteristics of Familial Hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino - GENetic forms).

Mulatero P. , Tizzani D. , Viola A. , Monticone S. , Williams T. , Burrello J. , Galmozzi M. , Fulcheri C. , Chiarlo M. , Veglio F.

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 ...

ea0029p47 | Adrenal cortex | ICEECE2012

18-Hydroxycorticosterone, 18-hydroxycortisol and 18-oxocortisol in the diagnosis of primary aldosteronism and its subtypes.

Mulatero P. , Morra di Cella S. , Monticone S. , Burrello J. , Galmozzi M. , Terzolo M. , Fulcheri C. , Gomez-Sanchez E. , Gomez-Sanchez C. , Veglio F.

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 (...

ea0029p32 | Adrenal cortex | ICEECE2012

KCNJ5 Mutations in European Families with Non-Glucocorticoid Remediable Familial Hyperaldosteronism

Mulatero P. , Tauber P. , Zennaro M. , Monticone S. , Lang K. , Beuschlein F. , Fischer E. , Burrello J. , Pallauf A. , Galmozzi M. , Amar L. , Williams T. , Strom T. , Graf E. , Bandulik S. , Penton D. , Plouin P. , Warth R. , Allolio B. , Jeunemaitre X. , Veglio F. , Reincke M.

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...