Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

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 ...