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...

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...

Introduction: Hypoparathyroidism (HPT), pseudohypoparathyroidism (PHP), and end-organ parathyroid hormone (PTH)-resistance are rare metabolic disorders characterized by low serum calcium and increased serum phosphorus due to a PTH-deficient or resistant state. Various genes/loci have been identified as responsible for the development of congenital/familial forms of HPT, PHP and related diseases.Patients and Methods: A total of 39 patients with a clinical...

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 ...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by pathogenic gain-of-function calcium-sensing receptor gene (CASR ) variants, is characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hypercalciuria, hyperphosphatemia and hypomagnesemia. Current standard-of-care (SoC) (calcium and active vitamin D) can exacerbate hypercalciuria, which may result in renal complications. Encaleret is an investigational oral calcilytic, functioning as a negative allo...

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...

Hypoparathyroidism, a rare disorder characterized by absent or low levels of parathyroid hormone (PTH), often results from thyroid surgery. However, nonsurgical etiologies are present in >10% of patients. Data about this group of patients are limited.In this post hoc REPLACE (NCT00732615, EudraCT2008-005063-34) analysis, baseline characteristics and response to 50–100 μg/day rhPTH(1-84) in patients with postsurgical or nonsurgical ...

Epidemiological data clearly evidence a protective role of estrogens against the development of colon cancer and ERβ has been identified as the predominant ER subtype in human colon. More recently it has been identified as a favourable prognostic marker in this disease, possibly explaining the protective effect of estrogens against colon cancer development. To understand the specific role and mechanism of action of ERβ in colon tumorigenesis we developed an in vit...