Endocrine Abstracts

Context: Programmed cell death protein 1/programmed cell death protein ligand 1 (PD-1/PD-L1) are key regulators in T-cell activation and tolerance. Nivolumab (PD-1 inhibitor) and Atezolizumab (PD-L1 inhibitor) are monoclonal antibodies approved for the treatment of several types of advanced cancers. Immune checkpoint inhibition caused by these drugs can result in immune-related adverse events (irAEs) New-onset diabetes mellitus has been reported in fewer than 1% of patients an...

Primary hyperparathyroidism (PHPT) is usually a sporadic disorder, but in <10% of cases occurs as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism-jaw tumor syndrome (HPT-JT) and familial isolated hyperparathyroidism (FIHP).MEN 1 is an autosomal dominant disorder characterized by tumours in multiple endocrine glands, most commonly parathyroid, enteropancreatic and anterior pitui...

Primary hyperparathyroidism (PHPT) is usually a sporadic disorder, but in <10% of cases occurs as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism–jaw tumor syndrome (HPT–JT) and familial isolated hyperparathyroidism (FIHP).MEN1 is an autosomal dominant disorder characterized by tumours in multiple endocrine glands, most commonly parathyroid, enteropancreatic and anter...

Primary hyperparathyroidism (PHPT) is a frequent cause of secondary osteoporosis, but its role about the fracture is still controversial. We evaluated 157 consecutive postmenopausal patients with PHPT compared with two control subjects (C), each one matched for age and month-since-menopause (MSM). We measured ionized calcium (Ca2+), parathyroid hormone (PTH), 25-OH-vitamin D (25-OH vit D), osteocalcin (OC), bone alkaline phosphatase (B-ALP) and serum and urinary cro...

Familial isolated primary hyperparathyroidism (FIPH) can result either from incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia types 1 (MEN 1), hyperparathyroidism-jaw tumor syndrome (HPT-JT), or familial hypocalciuric hypercalcemia (FHH)] or still unrecognized causes.We investigated the involvement of MEN1, HRPT2 and CASR genes by direct sequencing of germline DNA in seven...

RAP (LDL receptor associated protein) is a 44 kDa endoplasmic reticulum (ER) resident molecular chaperone. In the thyroid RAP is required for expression of megalin, an endocytic receptor responsible for transcytosis of thyroglobulin (Tg), but it also binds to Tg itself, suggesting it may affect thyroid function in various manners. Indeed, findings in RAP KO mice indicate that disruption of the RAP gene results in impaired Tg storage into the colloid, suggesting that RAP serves...

Thyroid associated ophthalmopathy (TAO) is a chronic autoimmune disorder characterized by an increased volume of the adipose/connective tissue in the human orbit. Fibroblasts from the connective orbital tissue are able to differentiate into mature adipocytes if grown in particular culture conditions. Aim of the present study was to determine the gene expression profile of orbital fibroblasts after adipocytic differentiation. Fibroblasts in primary culture were obtained from or...

BackgroundThyrotoxicosis is a common immune-related adverse event in patients treated with PD1 or PD-L1 blockade. A detailed endocrinological assessment, including thyroid ultrasound and scintigraphy is missing, as are data on response to treatment and follow-up. Aim of the study was to better characterize the thyrotoxicosis secondary to immune checkpoint inhibitors, gaining insights into pathogenesis and informing management.Metho...

Background: Patients with hypoparathyroidism experience significant physical and cognitive symptoms and reduced health-related quality of life (HRQoL). Conventional therapy for hypoparathyroidism does not fully alleviate diminished HRQoL. The Hypoparathyroidism Patient Experience Scales (HPES) were developed to assess disease-specific physical and cognitive symptoms as well as the impact of hypoparathyroidsm on HRQol. TransCon PTH, an investigational long-acting prodrug of par...

Conventional therapy with oral calcium supplements and activated vitamin D is the most diffuse and available therapy for chronic hypoparathyroidism (HypoPT). This treatment does not replace the lack of PTH and is associated with renal complications. We report the results of a case control study with a prospective design which included 178 adult patients with differentiated thyroid cancer treated with total thyroidectomy with a follow-up longer that 3 years after surgery: 89 wi...