Endocrine Abstracts

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...

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 ...

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 Graves’ disease ...

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...

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...

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...

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...

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...

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...

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...