Searchable abstracts of presentations at key conferences in endocrinology

ea0090ap4 | European Hormone Medal Award Lecture | ECE2023

The Parathyroid Hormone Saga: A Never Ending Story

Brandi Maria Luisa

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...

ea0049s22.1 | Rare bone diseases (Endorsed by the European Journal of Endocrinology) | ECE2017

Approach for clinicians

Brandi Maria-Luisa

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...

ea0070aep181 | Bone and Calcium | ECE2020

Clinical presentations of patients receiving PTH-therapy among the referral population with hypoparathyroidism.

Gronskaia Sofia , Grebennikova Tatiana , Pigarova Ekaterina , Rozhinskaya Luidmila , Melnichenko Galina , Luiza Brandi Maria , Belaya Zhanna

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...

ea0014p283 | (1) | ECE2007

In vitro effects of 17 βE2 and raloxifene on desmoid tumour derived cells

Picariello Lucia , Sala Silvia Carbonell , Martineti Valentina , Gozzini Alessia , Brandi Maria Luisa , Tonelli Francesco

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...

ea0056p647 | Endocrine tumours and neoplasia | ECE2018

New germline mutation of the CDC73 gene in a Romanian family with hyperparathyroidism-jaw tumour syndrome

Grigorie Daniel , Ciuffi Simone , Franceschelli Francesco , Sucaliuc Alina , Brandi Maria Luisa

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...

ea0099rc2.1 | Rapid Communications 2: Calcium and Bone | Part I | ECE2024

Genetics of congenital hypoparathyroidism and pseudohypoparathyroidism: results of a multigenic screening in an Italian cohort of affected patients

Marini Francesca , Giusti Francesca , Cetani Filomena , Mantovani Giovanna , Garagnani Paolo , Brandi Maria Luisa

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...

ea0090p30 | Calcium and Bone | ECE2023

In vitro study of rapid non-genomic effects of 25(OH)D3 in preosteoblastic cells

Donati Simone , Palmini Gaia , Aurilia Cinzia , Falsetti Irene , Marini Francesca , Galli Gianna , Zonefrati Roberto , Iantomasi Teresa , Luisa Brandi Maria

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 ...

ea0090p112 | Endocrine-related Cancer | ECE2023

The involvement of endocannabinoid system in Multiple Endocrine Neoplasia type 1 (MEN1)

Aurilia Cinzia , Donati Simone , Palmini Gaia , Falsetti Irene , Galli Gianna , Zonefrati Roberto , Iantomasi Teresa , Luisa Brandi Maria

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...

ea0035oc6.5 | Bone, calcium & vitamin D | ECE2014

The effect of recombinant human parathyroid hormone, rhPTH(1–84), on vitamin D metabolism and phosphate homeostasis: Results from phase III 24-Week REPLACE and phase I clinical studies

Brandi Maria Luisa , Beckers Albert , Vokes Tamara , Mannstadt Michael , Bilezikian John , Clarke Bart , Lagast Hjalmar , Shoback Dolores

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 ...

ea0099oc2.6 | Oral Communications 2: Calcium and Bone | Part I | ECE2024

CALIBRATE: A phase 3, randomized, open-label study evaluating the efficacy and safety of encaleret (CLTX-305) compared to standard of care in participants with autosomal dominant hypocalcemia type 1 [NCT05680818]

Rejnmark Lars , Mannstadt Michael , Brandi Maria Luisa , Ozono Keiichi , Tebben Peter , Mathew Arun , Roberts Mary Scott , Adler Scott , Gafni Rachel

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...