Searchable abstracts of presentations at key conferences in endocrinology

ea0070ep102 | Bone and Calcium | ECE2020

A case of hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome in a boy carrying a novel mutation of GATA3 gene

Mazoni Laura , Apicella Matteo , Borsari Simona , Banti Chiara , Michelucci Angela , Adelaide Caligo Maria , Cetani Filomena , Marcocci Claudio

HDR syndrome is a rare condition with an autosomic dominant inheritance, firstly described in 1977. It is due to a mutation of GATA3 gene, a transcription factor expressed in parathyroid, inner ear, kidney, central nervous system and T lymphocytes. The most common manifestation is neurosensorial deaf, secondary to progressive degeneration of coclear cells. Hypoparathyroidism is present in 90% of patients that can be asymptomatic or, sometimes presents with ne...

ea0032p132 | Calcium and Vitamin D metabolism | ECE2013

Normocalcemic primary hyperparathyroidism: an Italian epidemiologic study

Vignali Edda , Meola Antonella , Centoni Roberta , Maria Gibilaro Rosa , Daniello Giuseppe , Cetani Filomena , Chiavistelli Silvia , Saponaro Federica , Marcocci Claudio

Primary hyperparathyroidism (PHPT) is defined by hypercalcemia and high PTH levels. In recent years a variant of PHPT has been described, namely normocalcemic PHPT (NPHPT), which is characterized by normal serum calcium and high PTH levels, in the absence of other causes of secondary hyperparathyroidism. The epidemiology of NPHPT is poorly understood. We performed a survey in the early fall in a small Southern Italian village, in which all adult residents (n=1811) wer...

ea0022oc6.1 | Bone | ECE2010

A proteomic approch to study parathyroid glands

Cetani Filomena , Giusti Laura , Ciregia Federica , Banti Chiara , Da Valle Ylenia , Donadio Elena , Lucacchini Antonio , Marcocci Claudio

The molecular basis of parathyroid tumorigenesis has increased greatly over the last years and the variety of described abnormalities suggests different genetic defects leading to dysfunction of parathyroid cells. Using a combined approach based on two-dimensional electrophoresis (2DE) and mass spectrometry (MS) we performed a comparative proteome analysis to examine the global changes of parathyroid adenoma tissues protein profile with respect to the normal parathyroid tissue...

ea0056gp179 | Parathyroid | ECE2018

Stone risk profile analysis in patients with asymptomatic primary hyperparathyroidism

Saponaro Federica , Cetani Filomena , Di Giulio Marina , Mazoni Laura , Apicella Matteo , Pardi Elena , Borsari Simona , Marcocci Claudio

The kidney is an important target of primary hyperparathyroidism (PHPT). The 4th International Workshop for the management of Asymptomatic PHPT included the presence of hypercalciuria (24-h urinary calcium > 400 mg/day) and increased stone risk by biochemical stone risk profile as criteria for surgery. Increased stone risk profile was defined as at least one between ßCaOx>4 and ßHPO4>2, as defined in literature in a different study population. The aim of ...

ea0081p295 | Calcium and Bone | ECE2022

18Fluoro-choline PET/CT is a useful localization technique in patients with primary hyperparathyroidism

Pierotti Laura , Dinoi Elisa , Mazoni Laura , Apicella Matteo , Materazzi Gabriele , De Napoli Luigi , Bola Stefano , Faranda Alessio , Volterrani Duccio , Marcocci Claudio , Cetani Filomena

Primary hyperparathyroidism (PHPT) is a common endocrine disease mainly caused by a single parathyroid adenoma. Although the localization of the parathyroid adenoma is not a surgical criterion for parathyroidectomy (PTX), this is known to increase the cure rate and reduce the complication rate. Neck ultrasound and MIBI-scintigraphy are the first-line techniques to detect hyperfunctioning parathyroid tissue, however, they have some limitations including the operator-dependent s...

ea0081p298 | Calcium and Bone | ECE2022

Evaluation of pth deprivation effects on spatial memory in a rat model of chronic post-surgical Hypoparathyroidism

Saponaro Federica , Ronca Francesca , Dettori Cristina , Frascarelli Sabina , Di Buono Giulia , Giacomelli Silvia , Chiellini Grazia , Scalese Marco , Cetani Filomena , Marcocci Claudio , Zucchi Riccardo

Introduction: Hypoparathyroidism (HypoPT) is a rare endocrine disease which is characterized by hypocalcaemia and undetectable or inappropriately low serum parathyroid hormone (PTH). Post-surgical HypoPT (PS-HypoPT) is the most common cause, caused by accidental parathyroid removal/injury during neck surgery. Conventional therapy with calcium and vitamin D analogues does not restore calcium homeostasis and patients with chronic PS-HypoPT complain with several complications. Fr...

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...

ea0063oc1.2 | Calcium and Bone | ECE2019

Urinary magnesium as predictor of nephrolithiasis in patients with asymptomatic primary hyperparathyroidism

Saponaro Federica , Cetani Filomena , Giulio Marina Di , Giulio Francesco Di , Mazoni Laura , Apicella Matteo , Scalese Marco , Pardi Elena , Borsari Simona , Marcocci Claudio

The 4th International Workshop for the management of asymptomatic PHPT included the presence of hypercalciuria (dUCa> 400 mg/day) and increased stone risk by biochemical stone risk profile as criteria for surgery. Our aim was to evaluate the complete stone risk profile in 176 consecutive patients with asymptomatic PHPT. We recorded clinical and biochemical data, including 24 hours urinary measurements of the following parameters: volume and pH, creatinine, calcium, magnesi...

ea0049ep348 | Endocrine tumours and neoplasia | ECE2017

Exome analysis of a large family with familial isolated primary hyperparathyroidism (FIHP) and multiple cancers

Cetani Filomena , Pardi Elena , Borsari Simona , Saponaro Federica , Torregrossa Liborio , Mazzanti Chiara , Aretini Paolo , Ferla Marco La , Franceschi Sara , Lessi Francesca , Civita Prospero , Marcocci Claudio

Familial Isolated Hyperparathyroidism (FIHP) is a hereditary disorder characterized by primary hyperparathyroidism (PHPT) with no evidence of other endocrine disorders. Germline MEN1, CDC73 and CASR mutations have been identified, but the majority of FIHP has still unrecognized causes. The aim of this study was to identify, by whole-exome sequencing, novel gene alterations in a large FIHP kindred. The family’s proband, her sister, brother and ni...