Searchable abstracts of presentations at key conferences in endocrinology

ea0063p469 | Calcium and Bone 2 | ECE2019

A case of apparently sporadic primary hyperparathyroidism carrying a germline mutation of CDC73 gene

Mazoni Laura , Apicella Matteo , Saponaro Federica , Pardi Elena , Banti Chiara , Rodia Cosimo , Marcocci Claudio , Cetani Filomena

We report the case of a 35 yrs- old man, who was referred to our Department in 2012, for symptomatic nephrolithiasis and low bone mass. Biochemical evaluation showed moderate hypercalcemia [albumin-corrected calcium 13.1 mg/dl (8.6–10.2) and markedly elevated PTH levels [1391 pg/ml (13–65)] consistent with the diagnosis of primary hyperparathyroidism (PHPT). Neck ultrasound revealed three enlarged parathyroid glands. The patient underwent right superior and inferior ...

ea0049ep278 | Calcium & Vitamin D metabolism | ECE2017

Primary hyperparathyroidism due to atypical adenoma: clinical, biochemical and histological features of an Italian cohort

Saponaro Federica , Giulio Marina Di , Pardi Elena , Borsari Simona , Materazzi Gabriele , Marcocci Claudio , Cetani Filomena

Primary hyperparathyroidism (PHPT) is mostly due to a benign parathyroid tumor (99%). Some have parathyroid ‘atypical adenomas’, rare tumors with histological features of parathyroid cancer (PC) (fibrous trabeculae, thick fibrous bands, mitotic figures in parenchymal cells), without local invasion or metastasis. We evaluated 20 patients with histological diagnosis of atypical adenomas. Patients were 13 women and seven males (mean age: 55±13 yrs). Nineteen patien...

ea0041ep137 | Calcium and Vitamin D metabolism | ECE2016

Mass Spectrometry coupled with liquid chromatography (HPLC-MS-MS) levels of 25-hydroxy vitamin D (25OHVitD) are associated with prognostic markers of Heart Failure

Saponaro Federica , Saba Alessandro , Frascarelli Sabina , Marcocci Claudio , Cetani Filomena , Passino Claudio , Zucchi Riccardo

Introduction and aims: Heart failure (HF) is a health problem with poor prognosis, despite many treatments available. Vitamin D is the pre-hormone of the active calcitriol (1,25(OH)2D3). It is involved in bone homeostasis, but recent studies suggest extraskeletal functions, including pleiotropic effects on cardiovascular system and a relationship between low levels of 25OHvitamin D and worse HF prognosis. The aims of the study were: 1) to define 25OH-D levels in the HF populat...

ea0070aep129 | Bone and Calcium | ECE2020

The picture of primary hyperparathyroidism in Italy: Proceeding from hyperparanet survey

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

This is a multicentre retrospective observational study, with the aim to characterize the presentation, management and cure rate of Primary Hyperparathyroidism (PHPT) in Italy. Sixty-one Italian Centres of Endocrinology participated in the study. Clinical, biochemical and instrumental records of 2173 patients with diagnosis of PHPT were collected on a specific online platform (Hyperparanet). Patients were 1808 females (83.2%) and 365 males (16.8%). Diagnosis of PHPT was made a...

ea0070ep418 | Thyroid | ECE2020

3-iodothyronamine (T1AM) is taken up and rapidly metabolized in cell culture medium only at low concentration

Saponaro Federica , Borsò Marco , Verlotta Sara , Bandini Lavinia , Saba Alessandro , Ghelardoni Sandra , Zucchi Riccardo

3-iodothyronamine (T1AM) is rapidly catabolized to iodothyroacetic acid after few hours by serum proteins. To avoid a rapid metabolism during any treatment, DMEM devoid of FBS has been used, inducing changes in the cell culture environmental. We evaluated the uptake and the metabolism of different concentrations of T1AM, in presence of supplemented medium, and the presence of 3-iodothyroacetic aldehyde (Ald), a putative intermediate of T1AM catabolism to TA1.<p ...

ea0056gp183 | Parathyroid | ECE2018

A novel mutation in the calcium sensing receptor GENE IN AN Italian family affected by autosomal dominant hypocalcemia

Mazoni Laura , Borsari Simona , Pardi Elena , Saponaro Federica , Banti Chiara , Marconcini Giulia , Marcocci Claudio , Cetani Filomena

The G protein-coupled calcium sensing receptor (CaSR), widely expressed on the surface of parathyroid chief cells and in the kidney, plays a central role in calcium homeostasis. Activating mutations of CaSR gene are responsible for autosomal dominant hypocalcemia (ADH), a rare disorder caused by hypocalcemia, hyperphosphatemia, hypercalciuria and inadequately low concentration of parathyroid hormone (PTH). In this study, we report a family affected by ADH. The proband...

ea0056p239 | Calcium &amp; Vitamin D metabolism | ECE2018

Prevalence of basal ganglia calcification in patients with pseudohypoparathyroidism

Mazoni Laura , Saponaro Federica , Apicella Matteo , Mantovani Giovanna , Marcocci Claudio , Cetani Filomena

Pseudohypoparathyroidism (PHP) is group of heterogeneous disorders characterized by hypocalcemia, hyperphosphatemia and elevated paratormone (PTH) levels as a result of end-organ resistance to PTH. Basal ganglia calcification (BGC) in states of hypoparathyroidism is not uncommon. In PHP, BGC can occur up to 50%; the pathogenesis is poorly defined. The aim of our study was to evaluate the prevalence of BGC at baseline observation in a series of patients with PHP followed at a t...

ea0081p304 | Calcium and Bone | ECE2022

Weakening of short- and long-term verbal memory in patients with PHPT, evaluated by a neuropsychological approach

Saponaro Federica , Alfi Gaspare , Cetani Filomena , Matrone Antonio , Mazoni Laura , Apicella Matteo , Lai Elisa , Laurino Marco , Gemignani Angelo , Marcocci Claudio

Introduction and aims: Primary Hyperparathyroidism (PHPT) is a common endocrine disease associated with hypercalcemia and elevated or inappropriately normal serum levels of PTH. Among PHPT manifestations, neuropsychological symptoms have been described, including depression, anxiety, loss of memory, impaired cognition, with a wide range (3-50%) depending on the study population. Neuropsychological/ccognitive symptoms in patients with PHPT have been evaluated as part of quality...

ea0037ep282 | Calcium and Vitamin D metabolism | ECE2015

A prospective study on juvenile primary hyperprathyroidism population

Saponaro Federica , Cacciatore Federica , Vignali Edda , Picone Antonella , Banti Chiara , Meola Antonella , Borsari Simona , Pardi Elena , Marcocci Claudio , Cetani Filomena

Primary hyperparathyroidism (PHPT) is a common disorder in adults but is uncommon in young people and features of juvenile PHPT (J-PHPT) are debated in literature. The aim of the study was to evaluate the characteristics of PHPT in juvenile sporadic (S) and familial (F) patients. It’s a monocentric prospective study at a referral centre in 154 patients with ≤40 years. Patients were evaluated at diagnosis and at the last follow-up visit (median follow-up 2 years), co...

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...