Searchable abstracts of presentations at key conferences in endocrinology

ea0081mte12 | Diagnostic approach and clinical management of hypophosphatemia: Is it really an endocrine disorder?. | ECE2022

Diagnostic approach and clinical management of hypophosphatemia: Is it really an endocrine disorder?

Corbetta Sabrina

Phosphorus is involved in energy storage, metabolism, nucleic acids, cell membrane function, cell signaling; it is a fundamental constituent of skeleton and teeth. Pi homeostasis is regulated mainly by three hormones, namely parathyroid hormone (PTH), vitamin D and Fibroblast Growth Factor 23 (FGF23). Additionally, sex hormones are known to decrease circulating Pi levels, by reducing renal tubular reabsorption through direct and indirect effects on renal phosphate channels and...

ea0081p306 | Calcium and Bone | ECE2022

Effects on bone mineral density and bone markers of the sequential treatment with teriparatide followed by zoledronic acid in patients with severe fractured osteoporosis: retrospective real-life data

Dito Giorgia , Degradi Chiara , Guabello Gregorio , Longhi Matteo , Corbetta Sabrina

Osteoporosis is a chronic condition requiring long-term treatment; sequential treatment regimens with different agents represents an option aimed to increase bone mineral density (BMD) and then to maintain it. The loss of BMD occurring after withdrawal of teriparatide (TPT) can be prevented by bisphosphonates (BPs). Among BPs, data about the efficacy of zoledronic acid (ZOL) after TPT treatment are scanty. Here, we contribute to this topic providing data derived from the real-...

ea0081ep162 | Calcium and Bone | ECE2022

Hypophosphatemia in patients with primary hyperparathyroidism

Amodeo Alessandro , Dito Giorgia , Guabello Gregorio , Longhi Matteo , Corbetta Sabrina

Osteoporosis management increased determination of serum calcium (Ca) levels, and detection of hypercalcemia in the set of out patients. Serum phosphate (P) levels are less frequently measured in osteometabolic patients. Primary hyperparathyroidism (PHPT) is the most common cause of hypophosphatemia. However, hypophosphatemia receives poor attention during the PHPT diagnostic work up, and also data in literature are scanty. We retrospectively reviewed the clinical records from...

ea0063p474 | Calcium and Bone 2 | ECE2019

Hypophosphatemia in osteoporotic patients referred to a single third level centre: prevalence, clinical features and diagnostic challenges

Indirli Rita , Guabello Gregorio , Longhi Matteo , Passeri Elena , Corbetta Sabrina

Chronic hypophosphatemia (HP) can be observed among patients (pts) evaluated and treated for osteoporosis, but its prevalence and management are poorly defined. In this study we analyze prevalence, clinical features and diagnostic workup for chronic HP among pts attending a third-level osteoporosis office. Chronic HP was defined as serum phosphate levels persistently < 2.7 mg/dl over a period ≥ 6 months. Tubular reabsorption of phosphate (TRP) was measured and, in pr...

ea0073aep131 | Calcium and Bone | ECE2021

Hypercalciuria and associated mineral metabolism disorders in osteopenic/osteoporotic patients: effects of treatment with thiazide diuretics

Nicoli Federico , Dito Giorgia , Guabello Gregorio , Longhi Matteo , Corbetta Sabrina

Hypercalciuria may represent a challenge during the workup for osteoporosis management. The present study aimed: 1) to describe the phenotype associated with hypercalciuria in vitamin D-repleted (serum 25OHD > 20 ng/ml) osteopenic/osteoporotic patients, focusing on kidney, bone and mineral metabolic features; 2) to analyze the effects of thiazides and anti-resorptive drugs on urine calcium excretion (UCa) and mineral metabolism markers. Seventy patients (67 postmenopausal ...

ea0070aep199 | Bone and Calcium | ECE2020

Biochemical and clinical findings distinguishing between the genetic and the acquired conditions in osteoporotic patients with low serum alkaline phosphatase levels

Sileo Federica , Guarnieri Vito , Indirli Rita , Guabello Gregorio , Longhi Matteo , Dito Giorgia , Corbetta Sabrina

Background: Hypophosphatasia is a rare genetic disease with low serum alkaline phosphatase (ALP) activity and hypophosphatasemia. It is caused by loss-of-function mutations and deletions of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) gene; it has a wide range of severity in its phenotype, from death in utero to asymptomatic disease accidentally diagnosed in adult life. Furthermore, some diseases and drugs may induce hypophosphatasemia. Thus, the ...

ea0020p520 | Paediatric Endocrinology | ECE2009

Mild hypothyroidism in children with congenital heart malformations

Passeri Elena , Ermetici Federica , Carminati Massimo , Costa Elena , Fugazzola Laura , Persani Luca , Ambrosi Bruno , Corbetta Sabrina

Congenital hypothyroidism is frequently associated with congenital cardiac malformations (CCM). Studies in knock-out mice showed that heart and great vessels organogenesis share some nuclear transcription factors with the embryonic thyroid, suggesting that thyroid defects may have a higher prevalence in children with CCM. The present study investigated thyroid function and morphology in 280 children (145 M/135 F, aged 0.3–12 years), affected by CCM (septal defects, ductus...

ea0014oc2.3 | Bone &amp; calcium metabolism | ECE2007

Clinical and biochemical differences in patients affected with sporadic and type 1 multiple endocrine neoplasia (MEN) related primary hyperparathyroidism

Eller-Vainicher Cristina , Massironi Sara , Peracchi Maddalena , Persani Luca , Beck-Peccoz Paolo , Spada Anna , Corbetta Sabrina

Primary hyperparathyroidism (PHPT) may occur sporadically or within MEN syndromes. It is classically thought that PHPT in MEN occurs at earlier ages than sporadic PHPT without significant differences in clinical and biochemical presentation. The aim of the study was to compare clinical and biochemical parameters between sporadic PHPT and MEN1 patients. The study included 41 genetically diagnosed MEN1 patients (14M, 27F) and 88 sporadic PHPT patients (24M, 64F) matched for age ...

ea0063oc1.3 | Calcium and Bone | ECE2019

Menin and EZH2 activities modulate the expression of the long non-coding RNA HAR1B in parathyroid tumors

Morotti Annamaria , Verdelli Chiara , Guarnieri Vito , Muscarella Lucia Anna , Silipigni Rosa , Guerneri Silvana , Vicentini Leonardo , Vaira Valentina , Corbetta Sabrina

Epigenetic deregulation is emerging as a component of the parathyroid tumorigenesis. We identified a long non-coding RNA (LNCRNA) signature clearly distinguishing parathyroid adenomas (PAds) and carcinomas from normal glands. Among the deregulated LncRNAS, HAR1B was upregulated in PAds harboring the common chromosome 11q loss of heterozygosity (Chr11q-LOH; n=10) compared with PAds harboring normal chromosome 11 haplotype (Chr11q-WT; n=12; P&...

ea0037oc8.3 | Endocrine tumours | ECE2015

miR-372 is aberrantly expressed in most parathyroid tumours and might contribute to parathyroid tumourigenesis by inhibiting CDKN1A/p21 and LATS2

Verdelli Chiara , Forno Irene , Vaira Valentina , Guarnieri Vito , Scillitani Alfredo , Cetani Filomena , Vicentini Leonardo , Balza Gianni , Beretta Edoardo , Corbetta Sabrina

We previously described aberrant expression of microRNAs belonging to the chromosome 19 cluster (C19MC) and the close miR-371-373 cluster in two-thirds of parathyroid carcinomas (PCas). Therefore, we investigated the involvement of the miR-371-373 cluster in parathyroid tumours, where miR-372 was the most consistently upregulated. miR-372 is known to be highly expressed in human embryonic stem cells and definitely downregulated upon differentiation. Moreover, miR-372 promotes ...