Endocrine Abstracts

The calcium-sensing receptor (CaSR) is a guanine-nucleotide-binding protein (G-protein)-coupled receptor that has a central role in calcium homeostasis. Loss-of-function mutations of the CaSR result in familial hypocalciuric hypercalcemia type 1 (FHH1) and gain-of-function mutations in autosomal dominant hypocalcemia (ADH). Recently, loss-of-function Gα11 mutations have been identified to cause FHH2 and we hypothesised that gain-of-function Gα11...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor that regulates extracellular calcium concentration. The CaSR is also implicated in the pathogenesis of non-calcium disorders such as vascular calcification and diabetes, which are leading causes of cardiovascular disease. Common CaSR single nucleotide polymorphisms (SNPs) have been demonstrated to be determinants of calcium metabolism. The aim of this study was to investigate whether CaSR SNPs may influence va...

Diabetes is associated with an oxidative stress (OS). Free radicals are responsible of β-cell destruction in type 1 diabetes and their dysfunction in type 2. The purpose of this work is to evaluate preventive effect of antioxidative natural compounds on several models of OS induced on β-cells.The models of oxidative stress were performed with 40 μmol/l H2O2 for 30 min, with a mixture of 0.25 mmol/l hypoxanthine and 10...

Background: Differential diagnosis of ACTH-dependent hypercortisolism is crucial to indicate a proper treatment and is based on CRH-, high-dose dexamethasone suppression-test (HDDST) and pituitary MRI. However, up to 50% of cases of Cushing’s disease (CD) present a negative MRI or a visible lesion < 6 mm. In these patients, guidelines suggest to perform bilateral inferior petrosal sinus sampling (BIPSS) in order to establish a correct diagnosis. Aim of this study was ...

Introduction: Aberrant expression of serotonin receptors has been described to be involved in the pathophysiology of both aldosterone-producing and cortisol-producing adrenal adenomas.Case report: A 46-year-old woman was referred for evaluation of severe hypertension associated with hypokalaemia. Primary aldosteronism with concurrent subclinical Cushing’s syndrome was diagnosed. A CT-scan identified a lesion of 4 cm in the right adrenal gland and a ...

Background: No direct prospective studies comparing laser ablation (LA) and radiofrequency ablation (RFA) for debulking benign non-functioning thyroid nodules (BNTNs) exist. We aimed to compare the efficacy and safety of both techniques in patients with solid or predominantly solid BNTN.Methods: This six-month, single-use, randomized open label parallel trial compared the following primary endpoints between the RFA and LA groups six months after treatmen...

APECED is an autosomal – recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) or Addison disease (AD). Other autoimmune endocrine or non-endocrine conditions may be associated, like thyroiditis, celiac disease, alopecia and nail dystrophy. APECED is caused by mutations in the AIRE gene, mapping to 21q22.3. We report here 4 cases with atypical or incomplete presentation, that have been geneti...

Background: Radiofrequency ablation(RFA) has been advocated as an alternative to radioiodine and/or surgery for the treatment of autonomously functioning benign thyroid nodule (AFTN). However, only a few studies have investigated the efficacy of RFA on AFTN. Furthermore, these studies are characterized by several biases about patient selection, number of RFA treatments, short clinical and radiographic follow-up. A recent prospective 12-month study has demonstrated that one sin...

Objectives: AJCC/TNM staging system provides an estimate of mortality risk in differentiated thyroid cancer (DTC) patients and recent evidence showed that ATA risk stratification may improve the definition of this risk. We speculated that the integration of the response to the initial therapy (RIT) could better define the mortality risk.Methods: We retrospectively evaluated 891 consecutive DTC patients followed at the Section of Endocrinology, University...

Somatostatin (sst) receptors are expressed in many tissues and multiple subtypes are often present in the same cells. Their activation by endogenous sst as well as by sst-analogues leads to inhibition of secretion and growth in some tumor, such as the neuroedocrine ones.Pheochromocytomas (Pheos) and paragangliomas (PGLs) are neural crest-derived tumors which can be sympathetic or parasympathetic in origin and present themselves as sporadic or familial. T...