Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep176 | Calcium and Bone | ECE2022

PTH 1–34 delivery via insulin pump in a patient with severe post-operative hypoparathyroidism

Dinoi Elisa , Mazoni Laura , Pierotti Laura , Apicella Matteo , Marcocci Claudio , Cetani Filomena

Hypoparathyroidism (HypoPT) is the only hormone deficiency syndrome whose standard treatment is not based on the replacement of the missing hormone. Although most cases of postsurgical HypoPT can be effectively managed with the conventional use of oral calcium and active vitamin D (SOC therapy), some patients require very high doses and develop complications such as hypercalciuria, renal stones, nephrocalcinosis and ectopic calcifications. In the last few years, recombinant hu...

ea0081ep160 | Calcium and Bone | ECE2022

Clinical evidence for the benefits of burosumab therapy in two adult cases of X-Linked Hypophosphatemia

Dinoi Elisa , Pierotti Laura , Mazoni Laura , Borsari Simona , Pardi Elena , Cetani Filomena , Marcocci Claudio

X-linked hypophosphatemia (XLH), representing about 80% of hypophosphatemic rickets, is an X-linked dominant disease due to inactivating mutations in the PHEX gene (located at Xp22.1) resulting in an excessive secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23). The effects are renal phosphate wasting and reduced active vitamin D synthesis leading to rickets, osteomalacia, bone deformities, odontomalacia, frequent dental abscesses and disproporti...

ea0081ep177 | Calcium and Bone | ECE2022

Identification of GATA3 pathogenic variants in two patients with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome

Dinoi Elisa , Pierotti Laura , Mazoni Laura , Borsari Simona , Apicella Matteo , Baldinotti Fulvia , Caligo Maria Adelaide , Marcocci Claudio , Cetani Filomena

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism (H), deafness (D) and renal abnormalities (R). Its genetic cause is known to be the haploinsufficiency of the zinc finger transcription factor GATA3. This disorder exhibits a great clinical variability and an age-dependent penetrance of each feature. The most frequent manifestation is sen...

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...

ea0081p464 | Thyroid | ECE2022

Steroid treatment in the management of destructive thyrotoxicosis induced by PD1 blockade

Brancatella Alessandro , Pierotti Laura , Lupi Isabella , Montanelli Lucia , Viola Nicola , Sgro Daniele , Sardella Chiara , Antonangeli Lucia , Brogioni Sandra , Cremolini Chiara , Marcocci Claudio , Santini Ferruccio , Latrofa Francesco

Objective: Destructive thyroiditis is the most common endocrine immune related adverse event (iRAEs) in patients treated with anti-PD1/PD-L1 agents. Given its self-limited course, current guidelines recommend no treatment for this iRAE. Nevertheless in patients with enlarged thyroid volume and a poor performance status, thyrotoxicosis may be particularly severe and harmful. Aim of the study is to evaluate if steroid treatment might be useful in improving thyrotoxicosis in subj...