Searchable abstracts of presentations at key conferences in endocrinology

ea0063p115 | Calcium and Bone 1 | ECE2019

Severe diffuse tissue calcifications in a patient with pseudohypoparathyroidism type 1 A due to a novel large deletion of GNAS gene

Brancatella Alessandro , Mantovani Giovanna , Marcocci Claudio , Cetani Filomena

Pseudohypoparathyroidism type 1 A (PHP-1A) is a rare genetic disorder characterized by hypocalcemia, hyperphosfatemia, multi hormones resistance (PTH, TSH, Calcitonin, GH) associated with Albright hereditary osteodystrophy (AHO) features. The disease is caused by GNAS haploinsufficiency due to inherited inactivating mutation of GNAS-gene that codes for the stimulatory alfa subunit of G protein. A positive genotype-phenotype correlation was recently hypothesized. The purpose of...

ea0049ep274 | Calcium & Vitamin D metabolism | ECE2017

Calcifediol is more effective than cholecalciferol in the treatment of severe vitamin D deficiency in a patient submitted to malabsorbitive bariatric surgery: a case report

Brancatella Alessandro , Cappellani Daniele , Vignali Edda , Canale Domenico , Marcocci Claudio

Context: Vitamin D deficiency following malabsorptive bariatric surgery can lead to osteomalacia. We report a patient with severe vitamin D deficiency following malabsorptive bariatric surgery successfully treated with calcifediol but not cholecalciferol.Case description: A 40-year-old woman, submitted to biliopancreatic diversion 20 years before and chronically treated with 50 000 IU cholecalciferol weekly, was admitted to our Endocrine Unit because of ...

ea0056p1028 | Thyroid (non-cancer) | ECE2018

IgM thyroglobulin autoantibodies are detectable in serum of patients with subacute thyroiditis

Brancatella Alessandro , Ricci Debora , Marino Michele , Vitti Paolo , Latrofa Francesco

Context: Subacute thyroiditis (SAT) is an inflammation of the thyroid, likely caused by a viral infection. IgG Autoantibodies (Ab) to the main thyroid antigens, including thyroglobulin (Tg) (TgAb) have been reported in a few patients with SAT and their appearance is usually transient. We investigated whether IgM TgAb can be detected in sera of patients with SAT.Design: Serum samples were collected from 17 patients with SAT, ten with GravesÂ’ disease ...

ea0063p119 | Calcium and Bone 1 | ECE2019

Biochemical and clinical features of a family with a novel mutation of CYP24A1

Brancatella Alessandro , Cappellani Daniele , Kaufmann Martin , Borsari Simona , Jones Glenville , Marcocci Claudio , Cetani Filomena

Context: Mutations of cytochrome P450 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH), a disease recently related to vitamin D catabolism impairment.Aim of the study: Report of clinical and biochemical features of a large family with a novel mutation of CYP24A1.Methods: We performed dosage of total calcium, ionized calcium, 24 h urinary calcium, PTH, 25-OH-Vitamin D (25-O...

ea0063p708 | Pituitary and Neuroendocrinology 2 | ECE2019

Hypophysitis secondary to anti-pd1/pd-l1 blockade: variations in presentation, four distinct cases

Lanzolla Giulia , Viola Nicola , Brancatella Alessandro , Latrofa Francesco , Marcocci Claudio , Vitti Paolo , Lupi Isabella

PD-1/PD-L1 pathway is a key regulator in T-cell activation and tolerance. Nivolumab, pembrolizumab (a PD-1 inhibitors) and atezolizumab (a PD-L1 inhibitor) are monoclonal antibodies approved for treatment of advanced cancers. Autoimmune thyroid diseases are the most common immune-related adverse effects (IrAEs) occurring after anti-PD-1 or anti-PD-L1 therapy, whereas autoimmune hypophysitis is described more frequently in patients treated with anti-CTLA-4. IrAEs can be isolate...

ea0063p765 | Thyroid 2 | ECE2019

Thyroid disfunction during treatment with Nivolumab: nuances in clinical presentation

Brancatella Alessandro , Viola Nicola , Lanzolla Giulia , Vitti Paolo , Marcocci Claudio , Latrofa Francesco , Lupi Isabella

Context: Monoclonal antibodies to Immune Check Point inhibitors (ICPis) are powerful anti-cancer drugs. They trigger the immune system against cancer cells, blocking inhibitory signals of T-Cells. However, ICPi therapy can also stimulate autoimmune reactions, inducing the so-called immune-related adverse events (irAEs). Endocrinopathies are common iRAEs and thyroid disfunction is the most common endocrinopathy during ICP therapy. We report three cases of thyroid disfunction du...

ea0049ep238 | Bone & Osteoporosis | ECE2017

Teriparatide discontinuation in a patient with post surgical hypoparathyroidism: a clinical challenge

Brancatella Alessandro , Apicella Matteo , Fiore Emilio , Ceccarini Giovanni , Vignali Edda , Marcocci Claudio , Vitti Paolo , Molinaro Eleonora

Context: Teriparatide may represent a possible treatment for hypoparathyroidism when oral supplementation with calcium and calcitriol fail to maintain adequate serum calcium level (SCL). The switch from teriparitide to oral calcium and calcitriol could be challenging and there is no consensus for clinical management.Case presentation: A 50-year-old man was admitted at our Department for teriparatide discontinuation. Three years before admission, the pati...

ea0056p835 | Pituitary - Clinical | ECE2018

IgG4-related neuroinfundibulo-hypophysitis treated by rituximab and corticosteroids

Lupi Isabella , Urbani Claudio , Manetti Luca , Cosottini Mirco , Brancatella Alessandro , Cappellani Daniele , Bogazzi Fausto

IgG4-related hypophysitis, a type of IgG4-related disease, is a rare condition. It appears to be sensitive to glucocorticoids in most patients, but its recurrence is likely.Clinical case: A 17 year-old girl was referred for hypotonic polyuria and polydipsia of 1 month duration. Water deprivation test was suggestive of central diabetes insipidus. Basal and dynamic assessment of pituitary anterior function were unremarkable. Patient did suffer from autoimm...

ea0073aep880 | Late Breaking | ECE2021

Subacute thyroiditis at the time of SARS-CoV-2 pandemic

Brancatella Alessandro , Viola Nicola , Rutigliano Grazia , Daniele Sgrò , Santini Ferruccio , Latrofa Francesco

BackgroundSubacute thyroiditis (SAT) has been related to acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We evaluated the incidence and the severity of SAT due to SARS-CoV-2.MethodsA cross-sectional, retrospective study was conducted at the Endocrinology Unit of University-Hospital of Pisa, Italy. All patients experiencing SAT arisen within a period of 15 days earlier and yet untreated, assessed from J...

ea0084ps1-01-04 | COVID & Thyroid Disease | ETA2022

Subacute thyroiditis: The severity depends on the causative agent and the treatment requires a lower glucocorticoid dose than that recommended by the guidelines

Viola Nicola , Brancatella Alessandro , Sgro Daniele , Casula Mauro , Santini Ferruccio , Latrofa Francesco

Subacute thyroiditis (SAT) is an inflammation of the thyroid gland characterized by varying degrees of severity regarding thyrotoxicosis, inflammation and the incidence of hypothyroidism. The present study aims to identify whether the severity of SAT depends on the causative agent involved and to identify what is the optimal therapy. To this purpose we retrospectively evaluated 402 patients referred to of the University Hospital of Pisa because of to a SAT from January 2011 to...