Searchable abstracts of presentations at key conferences in endocrinology

ea0099rc2.1 | Rapid Communications 2: Calcium and Bone | Part I | ECE2024

Genetics of congenital hypoparathyroidism and pseudohypoparathyroidism: results of a multigenic screening in an Italian cohort of affected patients

Marini Francesca , Giusti Francesca , Cetani Filomena , Mantovani Giovanna , Garagnani Paolo , Brandi Maria Luisa

Introduction: Hypoparathyroidism (HPT), pseudohypoparathyroidism (PHP), and end-organ parathyroid hormone (PTH)-resistance are rare metabolic disorders characterized by low serum calcium and increased serum phosphorus due to a PTH-deficient or resistant state. Various genes/loci have been identified as responsible for the development of congenital/familial forms of HPT, PHP and related diseases.Patients and Methods: A total of 39 patients with a clinical...

ea0090p658 | Endocrine-related Cancer | ECE2023

Cellular models of parathyroid carcinoma: preliminary results

Palmini Gaia , Marini Francesca , Giusti Francesca , Donati Simone , Aurilia Cinzia , Falsetti Irene , Zonefrati Roberto , Perigli Giuliano , Santoro Roberto , Nesi Gabriella , Luisa Brandi Maria

Parathyroid carcinoma (PC) is an extremely rare endocrine malignancy of the parathyroid glands, representing less than 1% of all parathyroid neoplasms. PC is characterized by an excessive secretion of parathyroid hormone (PTH) and severe hypercalcemia. In contrast to parathyroid adenoma, the prognosis for patients with PC is poor, with an overall survival rate of 78-85% and 49-70% respectively at 5 and 10 years after diagnosis, due to the commonly unmanageable hypercalcaemia, ...

ea0099rc10.4 | Rapid Communications 10: Calcium and Bone | Part II | ECE2024

Increased bone fragility over time in women with chronic hypoparathyroidism: Real-world data from the HypoparaNet Italian Cohort

Giusti Francesca , Marini Francesca , Weiss Blandine , Ovize Michel , Benvenga Salvatore , Cetani Filomena , Colao Annamaria , Corbetta Sabrina , Degli Uberti Ettore , Iacobone Maurizio , Lenzi Andrea , Mantovani Giovanna , Maddalena Rmggeri Rosaria , Brandi Maria Luisa

Introduction: The HypoparaNet database includes 509 patients (110 men and 399 women) with chronic hypoparathyroidism (cHP), recruited and followed in 20 clinical centers in Italy from 2014 onwards. cHP etiology included 363 post-surgical cases (71.3%), 78 idiopathic cases (15.3%), and 64 patients with a genetic background (12.6%). Bone health is an important clinical aspect to be considered in patients with cHP, whose skeleton is exposed both to the cHP-induced alteration of b...