Searchable abstracts of presentations at key conferences in endocrinology

ea0016s20.5 | Translational highlights | ECE2008

V206M polymorphism of the SLC26A6 gene encoding a Cl-oxalate transporter in patients with primary hyperparathyroidism and kidney stones

Corbetta Sabrina , Eller-Vainicher Cristina , Frigerio Marcello , Valaperta Rea , Costa Elena , Vicentini Leonardo , Beck-Peccoz Paolo , Spada Anna

Primary hyperparathyroidism (PHPT) is associated with increased risk of kidney stones. Hypercalciuria and urine oxalate excretion are considered risk factors for urolithiasis in PHPT stone-formers. Recently, the anion-exchanger SLC26A6 has been involved in the oxalate metabolism. Slc26a6-null mice showed hyperoxalemia, hyperoxaluria resulting in dramatic calcium oxalate urolithiasis. We tested the hypothesis that urine oxalate excretion in PHPT patients might be modulat...

ea0016oc4.6 | Bone and adrenal | ECE2008

Isolation and characterization of cells coexpressing endothelial progenitors and parathyroid specific genes from human adult normal and tumoral parathyroids

Corbetta Sabrina , Belicchi Marzia , Pisati Federica , Meregalli Mirella , Eller-Vainicher Cristina , Vicentini Leonardo , Beck-Peccoz Paolo , Spada Anna

A peculiar characteristic of parathyroid tissue is the ability to spontaneously induce angiogenesis, to proliferate and to secrete PTH when autotransplanted in patients undergoing total parathyroidectomy. Since stem/progenitor cells have been involved in the process of tissue regeneration, we searched for putative parathyroid progenitors from human normal and tumoral parathyroids. By immunohistochemistry, FACS analysis and cell culture we identified parathyroid cells positive ...

ea0011oc49 | Calcium and bone OC49 Novartis Oncology Young Investigator Award | ECE2006

The A990G polymorphism of calcium sensing receptor gene (CASR) is associated with nephrolithiasis in patients with primary hyperparathyroidism (PHPT)

Eller-Vainicher C , Filopanti M , Vezzoli G , Soldati L , Saeli P , Beck-PEccoz P , Spada A , Corbetta S

Primary HPT shows a great variability in its clinical course and severity, which might be related to polymorphic variants of the CASR gene. The aim of the study was to evaluate the frequency of two known CASR single nucleotide polymorphisms (SNPs), i.e. G/T at codon 986 and G/A at codon 990, in a homogenous North-Italian cohort of PHPT patients compared with a sex and age matched healthy population and the possible correlation of these CASR gene variants with the clinical and ...

ea0073aep9 | Adrenal and Cardiovascular Endocrinology | ECE2021

Effects of adrenalectomy on arterial hypertension, glucose and lipid metabolism in patients with mild autonomous cortisol secretion: preliminary results of a Randomized Clinical Trial

Frigerio Sofia , Morelli Valentina , Aresta Carmen , Elena Passeri4 , Pugliese Flavia , Corbetta Sabrina , Scillitani Alfredo , Arosio Maura , Chiodini Iacopo

IntroductionThe management of patients with adrenal incidentaloma (AI) and mild autonomous cortisol secretion (MACS) is debated. This randomized study aimed to evaluate the effects of adrenalectomy on arterial hypertension (AH), glucose and lipid metabolism.MethodsWe consecutively evaluated 626 AI patients (referred to 3 Italian Centers between 06/2016 and 02/2020). According to the inclusion criteria, we enr...

ea0073aep21 | Adrenal and Cardiovascular Endocrinology | ECE2021

Metabolic and Inflammation markers in patients with mild autonomous cortisol secretion: preliminary results of a Randomized Clinical Trial

Morelli Valentina , Frigerio Sofia , Perego Silvia , Lombardi Giovanni , Aresta Carmen , Pugliese Flavia , Scillitani Alfredo , Arosio Maura , Corbetta Sabrina , Chiodini Iacopo

IntroductionIrisin is a molecule secreted from skeletal muscle and contributes to maintenance of metabolic homeostasis leading to increased energy expenditure and reducing the risk of obesity and diabetes. Literature data suggest that patients with Cushing disease have lower irisin values than controls and remission of hypercortisolism increases these values. Moreover, other plasma inflammation markers implicated in the pathogenesis of atherosclerosis, i...

ea0081p300 | Calcium and Bone | ECE2022

BCYRN/BC200: identification of a novel circulating biomarker of parathyroid carcinoma

Morotti Annamaria , Cetani Filomena , Passoni Giulia , Borsari Simona , Guarnieri Vito , Verdelli Chiara , Stefania Tavanti Giulia , Ferrero Stefano , Corbetta Sabrina , Vaira Valentina

Parathyroid carcinomas (PCas) are rare endocrine malignant neoplasia characterized by an abnormal PTH secretion and, consequently, severe and uncontrolled hypercalcemia. Clinically, the preoperative diagnosis can be misleading, because PCas share some molecular and clinical similarities with benign lesions and are often indolent. The histological diagnosis of carcinoma is achieved based on the presence of mitotic nuclear figures, capsular invasion, parenchyma infiltration, vas...

ea0090oc8.6 | Oral Communications 8: Calcium and Bone | ECE2023

Skeletal phenotypes in postmenopausal women with primary hyperparathyroidism (PHPT)

Corbetta Sabrina , Gianotti Laura , Castellano Elena , Raineri Francesca , Munari Elisabetta , Guabello Gregorio , Pierotti Laura , Dinoi Elisa , Valentina Simone Della , Cetani Filomena

Current clinical presentation of PHPT is mild disease with an increased risk of fragility fractures. PHPT predominantly occurs in postmenopausal women, who have an increased risk of osteoporosis and fractures due to ageing and loss of estrogen.Aims: To explore skeletal phenotypes in postmenopausal women affected by PHPT with a wide clinical and biochemical spectrum of disease.Patients: Postmenopausal (at least 5 years from last men...

ea0041gp115 | Endocrine Tumours | ECE2016

Loss of cells expressing the T-box transcription factor TBX1 might be associated with a quiescent phenotype in parathyroid tumours

Verdelli Chiara , Avagliano Laura , Ferrero Stefano , Guarnieri Vito , Cetani Filomena , Vicentini Leonardo , Beretta Edoardo , Scillitani Alfredo , Bulfamante Gaetano , Vaira Valentina , Corbetta Sabrina

Embryonic transcription factors have been involved in tumourigenesis. The transcription factor TBX1 regulates the embryonic parathyroid cells fate. Indeed, it has never been investigated in human adult parathyroids. Here, expression, function and regulation of the TBX1 gene were analyzed in adult normal and tumour parathyroid tissues. Immunohistochemistry identified 30–70% (mean±S.E.M, 52.0±7.3%) of cells expressing TBX1 at nuclear levels...

ea0041gp118 | Endocrine Tumours | ECE2016

Expression and regulation of the early embryonic stem cell genes in parathyroid tumours

Verdelli Chiara , Forno Irene , Ferrero Stefano , Guarnieri Vito , Scillitani Alfredo , Cetani Filomena , Vicentini Leonardo , Balza Gianni , Beretta Edoardo , Creo Pasquale , Vaira Valentina , Corbetta Sabrina

An embryonic gene signature has been suggested in parathyroid tumours. We investigated the expression of early embryonic stem cell (ESC) genes in parathyroid tumours. POU5F1/OCT4, SOX2 and NANOG transcripts were detected in almost all parathyroid adenomas (PAds; n=22) and atypical PAds (n=3), besides the variable expression of ESC genes KLF4, EGR1, and REX1/ZFP42. OCT4, SOX2 and NANOG proteins expression w...