Searchable abstracts of presentations at key conferences in endocrinology
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18th European Congress of Endocrinology

Guided Posters


ea0041gp1 | Adrenal | ECE2016

The role of primary cilia in the molecular pathogenesis of phaeochromocytoma

O'Toole Samuel , Srirangalingam Umasuthan , Drake William , Chapple J Paul

Phaeochromocytomas are neuroendocrine tumours arising from adrenal medulla chromaffin cells. They are life threatening due to adrenaline and noradrenaline release and potential for metastatic spread. Understanding of phaeochromocytoma pathogenesis is incomplete with limited ability to predict malignant potential. Additionally, once metastatic, response to conventional therapies is disappointing.Phaeochromocytomas are a common feature of the inherited can...

ea0041gp2 | Adrenal | ECE2016

Screening for a ten-gene panel in a group of 90 phaeochromocytomas

Sbardella Emilia , Cranston Treena , Mihai Radu , Grossman Ashley

Background: Several new gene mutations have been reported in recent years to be associated with a risk of familial phaeochromocytomas (PHAEOs). However, it is unclear as to whether extensive genetic testing is required in all patients (pts).Methods: Clinical data of consecutive patients operated for PHAEO over a decade in a tertiary referral centre were reviewed. Genetic screening was performed using a ten-gene panel: RET, VHL, SDHB, SDHD, SDHA, SDHC, SD...

ea0041gp3 | Adrenal | ECE2016

Follow-up of adrenal incidentalomas – are we overdoing it? Follow-up of 145 patients from a single centre

Austin Emily , Miller Ben , Shepherd Lisa , Bates Andrew

Background: Current practice of monitoring adrenal incidentalomas with biochemical follow-up and repeat imaging studies is under review by the ESE.Following an audit presented in 2015, we proposed that this extensive follow-up was unnecessary in radiologically benign lesions, as neither functional nor malignant lesions were present in this subgroup.Methods: A retrospective review of the same cohort of 145 patients with adrenal inci...

ea0041gp4 | Adrenal | ECE2016

The role of immunochemistry in the SDHx mutations in pheochromocytomas and paragangliomas

Angelousi Anna , Georgios Kyriakopoulos , Pavlos Constantinou , Georgios Zografos , Georgios Piaditis , Theodosia Xoreutaki , Dimitra Rontogianni , Gregory Kaltsas

Introduction: Early detection of succinate dehydrogenase complex (SDH) mutations in patients with pheochromocytoma and paragaglioma (PPC/PGL) has important implications as it is associated with increased risk for malignancy. The use of negative immunohistochemical (IHC) staining for SDH subunit B, D, A (SDHB/-D/-A) has been proposed as an indicator of SDHs mutation and as an effective substitute for the high-cost genetic screening of all of these genes.M...

ea0041gp5 | Adrenal | ECE2016

Improvement of bone turnover markers and bone mineral density following treatment of primary aldosteronism

Heng Loh Huai , Kamaruddin Nor Azmi , Sukor Norlela

Context: Recent studies showed association between hyperaldosteronism and low bone density among patients with primary aldosteronism (PA) due to secondary hyperparathyroidism.Objective: To assess bone turnover markers and bone mineral density (BMD) of PA patients compared to essential hypertension.Design: This was an open label, prospective, case-controlled study, conducted over 12 months.Setting: Eighteen co...

ea0041gp6 | Adrenal | ECE2016

Dissociation of subtype diagnosis by various criteria on adrenal venous samplings in primary aldosteronism

Ichijo Takamasa , Harada Marina , Ohira Akeo , Miyashita Naoko , Kanaguchi Momoko , Yamashita Kaoru , Ouchi Hiromi , Higa Mariko

Although the primary aldosteronism (PA) is the most common endocrinological hypertension accounted for approximately 10% of all hypertension population, the subtype classification criteria of adrenal venous samplings (AVS) have been still controversial. Thus, we demonstrated the several different criteria to diagnose the unilateral hyper-aldosteronism (UHA) suspected as adenomas in our series of patients with PA.This study is included 213 AVS performed P...

ea0041gp7 | Adrenal | ECE2016

New germline mutation in CACNA1H calcium channel causing primary aldosteronism

Roomp Kirsten , Grzyb Kamil , Wolf Cristina , Rhayem Yara , Oliver Nuria , Wardas Barbara , Beck Andreas , Pico Antonio , Beuschlein Felix , Skupin Alexander , May Patrick , Schneider Jochen G.

Introduction: Primary aldosteronism (PA) occurs due to an excess production of aldosterone in the adrenal glands, resulting in low renin levels and hypertension. Familial hyperaldosteronism is considered to be a relatively rare disorder, with only a small number of genes having been implicated so far. The aim of the present study is to identify the molecular cause of disease in a PA family, as well as examining the mechanisms in an in vitro setting.<p class="abste...

ea0041gp8 | Adrenal | ECE2016

Adequate salt intake attenuates mineralocorticoid receptor antagonist-induced hyperkalemia in patients with primary aldosteronism

Fountoulakis Stelios , Papanastasiou Labrini , Piaditis George

Introduction: Mild hyperkalemia is a common side-effect of mineralocorticoid receptor antagonists (MRA), which can be precipitated by minimizing dietary salt intake. Restoration of salt intake can overcome diminished kaliuresis and restore potassium levels. Aim of this study was the evaluation of the effect of adequate salt consumption on plasma potassium levels in relation to the mean, maximum and minimum blood pressure (BP) in MRA-treated sodium-depleted hyperkalemic patient...

ea0041gp9 | Adrenal | ECE2016

Is steroid profiling using LC-MS/MS useful in the diagnostic work-up of primary aldosteronism?

Williams Tracy A. , Lenders Jacques W.M. , Peitzsch Mirko , Dekkers Tanja , Dietz Anna S. , Rump Lars C. , Willenberg Holger S. , Treitl Marcus , Bidlingmaier Martin , Beuschlein Felix , Deinum Jaap , Eisenhofer Graeme , Reincke Martin

Introduction: Primary aldosteronism (PA) is mainly caused by unilateral aldosterone-producing adenomas (APA) or bilateral adrenal hyperplasia (BAH). Subtype differentiation relies on the invasive and technically challenging adrenal venous sampling (AVS). We recently demonstrated the potential utility of peripheral plasma steroid profiling by LC-MS/MS to distinguish APA and BAH. We tested the following hypotheses: first, if steroid profiling in combination with AVS, effectively...

ea0041gp10 | Adrenal | ECE2016

PRKACA somatic mutations are rare in aldosterone-producing adenomas.

Rhayem Yara , Perez-Rivas Luis Gustavo , Dietz Anna , Bathon Kerstin , Gebhard Christian , Riester Anna , Mauracher Brigitte , Gomez-Sanchez Celso , Schwarzmayr Thomas , Calebiro Davide , Strom Tim M. , Reincke Martin , Beuschlein Felix

Aldosterone-producing adenomas (APAs) are the most frequent cause of primary aldosteronism (PA). Somatic mutations of KCNJ5, ATP1A1, CACNA1D and ATP2B3 are involved in APAs formation while CTNNB1 and GNAS somatic mutations have been described in both APAs and in cortisol-producing adenomas (CPAs). In contrast, mutations of PRKACA coding for the catalytic subunit of protein kinase A have been yet only identified in ...