Searchable abstracts of presentations at key conferences in endocrinology

ea0020s14.2 | Thyroid | ECE2009

DUOX2 gene and thyroid disease

Moreno Jose C

Generation of hydrogen peroxide (H2O2) in thyroid cells is essential for the synthesis of thyroid hormone. H2O2 is produced by the Dual Oxidase 2 (DUOX2) at the apical membrane of the thyrocyte, where it is required by thyroperoxidase for the iodination of thyroglobulin. A dual oxidase maturation factor 2 (DUOXA2) was recently identified as an endoplasmic reticulum-resident protein required for expression of DUOX2 activity. DUOX2 and...

ea0063gp180 | Benign Thyroid Disorders | ECE2019

Urinary concentration of iodotyrosines correlates with the severity of iodine deficiency in dehal1 knockout mice

Gonzalez-Guerrero Cristian , Borso Marco , Garcia-Gimenez Jorge , Salas-Lucia Federico , Alikhani Pouya , Saba Alessandro , Zucchi Riccardo , Moreno Jose C

Thyroid hormone (TH) synthesis requires iodine, a scarce element whose recycling is mediated by DEHAL1 through deiodination of iodotyrosines MIT and DIT. In humans, DEHAL1 defects lead to severe congenital hypothyroidism (CH) non-detected by neonatal screening programs, which involves the risk of mental retardation in infants. The timing for establishment of this hypothyroidism remains unknown, but environmental iodine deficiency may represent a triggering factor. Whi...

ea0016s20.3 | Translational highlights | ECE2008

Monoallelic mutations in DUOXA2 are associated with mild permanent hypothyroidism and goiter

Ventura Paula , Azcona Cristina , Clemente Maria , Albisu Marian , Audi Laura , Carrascosa Antonio , Visser Theo , Moreno Jose C

Generation of H2O2 at the apical membrane of thyroid cells is essential for iodination of thyroglobulin. Dual oxidase 2 (DUOX2) is the catalytic core of the thyroidal H2O2 generator, and its deficiency leads to congenital hypothyroidism (CH) in humans and mice. The Dual oxidase maturation factor 2 (DUOXA2) is a recently identified endoplasmic reticulum (ER)-resident protein required for expression of DUOX2 activity.<p class="abst...

ea0056oc9.1 | Thyroid from basics to clinics | ECE2018

Increased urinary iodide precedes hypothyroidism in Dehal1 knockout mice

Gonzalez-Guerrero Cristian , Lucia Federico S. , Alcaina Yago , Gonzalez-Lopez Ana M. , Buno Antonio , Mora Roberto , De Miguel Maria Paz , Moreno Jose C.

Thyroid hormones (TH) synthesis requires iodine, a scarce element whose recycling is mediated by the iodotyrosine dehalogenase (encoded by the DEHAL1 gene) through deiodination of mono- and di-iodotyrosines. In humans, biallelic mutations in DEHAL1 lead to a severe form of congenital hypothyroidism (CH) non detectable by neonatal screening programs, which involves the risk of mental retardation. The timing and triggering factors of this particular type of hyp...

ea0084op-06-28 | Oral Session 6: Hypothyroidism | ETA2022

The optimal ranges of thyroid function based on the risk of cardiovascular disease and mortality: an individual participant data meta-analysis

Xu Yanning , Derakhshan Arash , Wildisen Lea , Hysaj Ola , Iacoviello Massimo , Ceresini Graziano , Ferrucci Luigi , Iervasi Giorgio , Pingitore Alessandro , Vaes Bert , Gussekloo Jacobijn , Medici Marco , Galesloot Tessel , P. F. Dullaart Robin , J.L. Bakker Stephan , Wouter Jukema J. , Trompet Stella , Westendorp Rudi , Ittermann Till , Volzke Henry , Dorr Marcus , Schmidt Borge , Fuhrer Dagmar , J. Wareham Nicholas , Boelaert Kristien , Razvi Salman , P. J. Vanderpump Mark , Muendlein Axel , Drexel Heinz , Bensenor Isabela , Sgarbi Jose , C. Bauer Douglas , A. Fink Howard , M. Rhee Connie , Azizi Fereidoun , Imaizumi Misa , B. Yeap Bu , Hankey Graeme , J. Brown Suzanne , P. Walsh John , Korevaar Tim , Rodondi Nicolas , R. Cappola Anne , Peeters Robin , Chaker Layal , the Thyroid Studies Collaboration for

Background and Objective: Thyroid function reference ranges are statistically defined by the 2.5th and 97.5th percentiles, which do not account for potential risk of clinical outcomes. We aimed to define the optimal ranges of thyroid-stimulating hormone (TSH) and free thyroxine (FT4), based on the risk of cardiovascular disease (CVD) and mortality.Methods: We performed an individual-participant data analysis and identified prospecti...