Endocrine Abstracts

Just before the turning of the 20th century a detailed series of connected events led to the understanding of the physiology, pathophysiology, chemical synthesis, cellular and molecular biology, and pharmacological use of parathyroid hormone (PTH) in the next 120 years. Thanks to scientists like Fuller Albright, Gerald D. Aurbach, John T. Potts, Karen K. Winer, Thomas J. Gardella, and many others, huge progress has been made over the decades through biotechnological advances t...

Rare skeletal metabolic diseases comprise a group of diseases commonly associated with severe clinical consequences. In recent years, the description of the clinical phenotypes and radiographic features of several genetic bone disorders was paralleled by the discovery of key molecular pathways involved in the regulation of bone and mineral metabolism. Including this information in the description and classification of rare skeletal diseases may improve the recognition and mana...

This study aims to evaluate patients who require PTH-treatment among the referral population with hypoparathyroidism.Methods: The information was collected from the registry database of chronic hypoparathyroidism, which was initiated by the National Medical Research Centre for Endocrinology (NMRCE).Results: Among 194 cases of hypoparathyroidism referred to our clinic over 2 years (2017–2019), eig...

Desmoid tumours (DT) are a benign manifestation of familial adenomatous polyposis. The prevalent development in young fertile women, the regression during menopause or with tamoxifen treatment, underlie the potential role of estrogens and Estrogen Receptors (ERs) in the pathogenesis of these tumors. To investigate this hypothesis, the expression of ERs α and β in desmoid tumors derived cell cultures, the effects of 17βE2 and of raloxifene on DT cell p...

Introduction: Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of familial hyperparathyroidism associated with ossifying fibromas (OF) of the maxillofacial bones and increased risk of parathyroid carcinoma, caused by inactivating germline mutation of the cell division cycle 73 (CDC73) gene.Case report: We report the first Romanian family with HPT-JT and genetic screening of CDC73 gene. Three of the six...

Background: Calcifediol (25(OH)D3), the major circulating form and the direct precursor of the biologically active form of vitamin D, has been identified as an agonist ligand for vitamin D receptor (VDR) with anti-proliferative effects and gene regulatory function despite having a lower receptor affinity respect than the biologically active form of vitamin D3. In fact, recent studies have suggested that 25(OH)D3 can regulate gene expression by ...

Background: Multiple endocrine neoplasia of type 1 (MEN1) is a rare heritable endocrine tumor syndrome that results from biallelic inactivation of the MEN1 gene and the loss of menin protein, that was characterized by a susceptibility to the development of multiple endocrine neoplasms within a single patient. The MEN1 gene screening is helpful in the clinical practice for early genetic diagnosis. Unfortunately, the lack of genotype-phenotype correlation doesn’t allow to f...

PTH promotes conversion of 25-hydroxyvitamin D (25[OH]D) to 1,25-dihydroxyvitamin D (1,25[OH]2D), thus stimulating intestinal calcium and phosphate absorption. Because of low PTH levels in hypoparathyroidism, patients are prescribed calcitriol. Patients are predisposed to hyperphosphatemia owing to loss of PTH-stimulated phosphate excretion by the kidneys. Effects of rhPTH(1–84) on vitamin D metabolism and serum phosphate were studied.In ...

Background The European Registries for Rare Endocrine Conditions and the European Registries for Rare Bone and Mineral Conditions were created in collaboration with the European Reference Networks for Rare Endocrine and Bone Disorders (Endo-ERN and ERN BOND). Following the onset of the COVID-19 pandemic in 2020, the registries, together with the ESE RD Committee, have collected the occurrence of confirmed and suspected cases of COVID-19 in patients with rare endocrine and bone...

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, ...