Searchable abstracts of presentations at key conferences in endocrinology

ea0011p778 | Thyroid | ECE2006

Prevalence of thyroid dysfunction in old residents in the province of Pavia, northern Italy

Magri F , Galimberti CA , Chytiris S , Chiovato L , Ferrari E

Thyroid dysfunction affects a considerable number of elderly subjects. However the role of screening and treatment of thyroid disorders in geriatric population is still debated. The aim of this study was the evaluation of the prevalence of thyroid dysfunction and its impact on comorbidity and comedication.Two independent populations were evaluated: 2001 residents in 21 federated nursing homes in the province of Pavia (Northern Italy), age >60 y, and ...

ea0056gp136 | Female Reproduction | ECE2018

Novel mechanisms and genes involved in the pathogenesis of primary ovarian insufficiency (POI) by whole-exome sequencing approach

Rossetti Raffaella , Ferrari Ilaria , Gentilini Davide , Persani Luca

The ovarian reserve naturally declines with age, however, 1–2% of women before 40 years experiences a premature exhaustion of the ovarian function and suffers from a fertility defect named Primary Ovarian Insufficiency (POI). The genetic origin of POI is well established and strongly supported by multiple reports of familial cases. To date, thanks to the candidate gene-discovery approach, few X-linked and autosomal genes have been associated to POI onset, but most of 46,X...

ea0056gp219 | Reproduction | ECE2018

Mitochondrial phenotype of FOXL2 variants associated with Blepharophimosis, Ptosis and Epicantus Inversus Syndrome (BPES)

Ferrari Ilaria , Rossetti Raffaella , Bigoni Stefania , Petrone Lisa , Persani Luca

Primary ovarian insufficiency (POI) is a highly heterogeneous condition defined by the occurrence of amenorrhoea, hypoestrogenism and hypergonadotropinism in women under 40. POI onset can be triggered by multiple factors, such as iatrogenic events, environmental conditions, autoimmunity or genetic alterations. When the ovarian insufficiency occurs as a consequence of either chromosomal or genetic alterations, it can be associated with other congenital abnormalities and classif...

ea0084ps2-06-52 | Hypothyroidism Treatment | ETA2022

The effect on serum tsh levels in patients in treatment with proton pump inhibitors after the switch from oral L-T4 tablet to a liquid L-T4 formulation

Fallahi Poupak , Martina Ferrari Silvia , Elia Giusy , Ragusa Francesca , Rosaria Paparo Sabrina , Mazzi Valeria , Antonelli Alessandro

Objective: The treatment with proton pump inhibitors (PPI; omeprazole, pantoprazole, lansoprazole) used for gastritis, gastric ulcer, etc. could lead to L-thyroxine (L-T4) malabsorption issues, that is induced by the increased gastric pH. Many factors like age, way of assumption (during breakfast or with food), other drugs interferences, drug-kinetics, adherence to therapy, could impair the L-T4 absorption.Methods: The study involved 27 hypothyroid patie...

ea0063p610 | Diabetes, Obesity and Metabolism 2 | ECE2019

Description of a novel AGPAT2 gene mutation (R159C) responsible for congenital generalized lipoatrophy type 1 (Berardinelli-Seip Syndrome)

Magno Silvia , Ceccarini Giovanni , Pelosini Caterina , Ferrari Federica , Scabia Gaia , Maffei Margherita , Vitti Paolo , Santini Ferruccio

Berardinelli-Seip congenital lipoatrophy type 1 (BSCL1) is a rare autosomal recessive disease caused by mutations in the AGPAT2 gene. This syndrome is characterized by near total absence of adipose tissue since birth, associated with the progressive development of metabolic complications. The AGPAT2 gene encodes for 1-acylglycerol-3phosphate-O-acyltransferase highly expressed in white adipocytes that catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a...

ea0029p1627 | Thyroid (non-cancer) | ICEECE2012

Serum chemokine CXCL10 is increased in chronic autoimmune thyroiditis associated with autoimmune gastritis

Santaguida M. , Ferrari S. , Duca S Del , Fallahi P. , Centanni M. , Antonelli A.

Autoimmune thyroiditis (AT) may occur as a single disease or associated with further endocrine and non endocrine autoimmune diseases (NEAD). Chronic autoimmune gastritis (CAG) is the more frequently associated NEAD. A prevalent Th1-representative pattern of cytokines and chemokines has been described in isolated autoimmune thyroiditis. However, the behaviour of chemokines when AT is associated with CAG is not known. Aim of the study has been to measure serum levels of CXCL10 i...

ea0029p1630 | Thyroid (non-cancer) | ICEECE2012

Beta (CCL2) and alpha (CXCL10) chemokines modulation by cytokines and by peroxisome proliferator-activated receptor-alpha agonists in Graves’ ophthalmopathy

Antonelli A. , Ferrari S. , Sellari-Franeschini S. , Corrado A. , Mancusi C. , Ferrini M. , Ferrannini E. , Fallahi P.

Introduction: No study has evaluated the effect of cytokines on the prototype beta chemokine (C-C motif) ligand (CCL)2 in Graves’ ophthalmopathy (GO), nor of peroxisome proliferator-activated receptor (PPAR)alpha activation on this chemokine secretion in fibroblasts or preadipocytes in GO.Design and methods: We have tested the interferon (IFN)gamma and tumor necrosis factor (TNF)alpha effect on CCL2, and for comparison on the prototype alpha chemoki...

ea0021p405 | Thyroid | SFEBES2009

Screening and management of thyroid dysfunction in pregnancy

Mada Srikanth , Tazeen Safira , Kwan Ferrari , Erakulapati Ravi , Bilous Mary , Bilous Rudy

Introduction: Maternal hypothyroidism is the most common disorder of thyroid function in pregnancy and may influence the outcome of mother and fetus at all stages.Aim: To evaluate screening and management of all high risk pregnant women for thyroid dysfunction.Method: A retrospective audit as carried out between January 2005 and December 2006. Our local standards were TSH<3 mIU/l for screening and TSH<2 mIU/l for treatment....

ea0011p5 | Bone | ECE2006

Osteoporotic fractures in old subjects: role of functional and nutritional status and therapy effects during one year after fracture

Magri F , Valdes V , Guazzoni V , Cupri M , Chiovato L , Ferrari E

In elderly subjects the mortality rate after hip fractures ranges from 18 to 33% within one year; among survivors, 40% did not return to the previous level of functional ability. The aim of this study was to evaluate the longitudinal changes of some markers of bone metabolism in relation to functional and nutritional status.Thirthy-seven subjects aged more 70y with a new vertebral or hip fracture were admitted to the study. Thirthy age-matched and not fr...

ea0011p64 | Clinical case reports | ECE2006

Sweet’s syndrome and thyroid diseases: is there a link?

Magri F , Gabellieri E , Sorrentino AR , Rizza MI , Chiovato L , Ferrari E

Sweet syndrome is a febrile dermatosis characterized by painful light red patches of quite different size involving various skin zones associated with flu like symptoms, arthralgias and rarely frank arthritis. Originally considered rare, over 500 cases in the past 10 years have been described. The etiology of Sweet’s syndrome is unknown, but a type of hypersensitivity reaction leading to stimulation of a cascade of cytokines has been strongly suggested. In very few cases ...