Abstract Search

ea0015p152 | Diabetes, metabolism and cardiovascular | SFEBES2008

Weight gain, on the background of human PPARγ haploinsufficiency, exposes a metabolic phenotype

Mitchell Catherine , Al-Ali Nadia , Savage David , Simpson Helen , Luan Jian'an , Semple Robert , Agostini Maura , Wareham Nicholas , Gurnell Mark , O'Rahilly Stephen , Chatterjee V Krishna

Peroxisome proliferator activated receptor gamma (PPARγ), a ligand-inducible transcription factor, is essential for adipocyte differentiation and lipogenesis. We previously described a kindred in which some individuals were heterozygous for a frameshift/premature stop mutation, (A553ΔAAAiT)fs.185(stop186) in PPARγ, with the truncated protein being non-functional and lacking dominant negative activity1. PPARγ null heterozygotes had norm...

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ea0021oc3.5 | Young Endocrinologists prize session | SFEBES2009

A multisystem selenoprotein disorder with a thyroid signature

Schoenmakers Nadia , Schoenmakers Erik , Agostini Maura , Mitchell Catherine , Papp Laura , Rajanayagam Odelia , Padidela Raja , Doffinger Rainer , Luan Jian'an , Lu Jun , Campi Irene , Burton Hannah , Muntoni Francesco , O' Donovan Dominic , Dean Andrew , Warren Anne , Guicheney Pascale , Fitzgerald Rebecca , Coles Alasdair , Gaston Hill , Holmgren Arne , Cooke Marcus S , Halsall David , Wareham Nicholas , Beck-Peccoz Paolo , Ogunko Arthur , Dattani Mehul , Gurnell Mark , Chatterjee Krishna

Selenocysteine insertion sequence-binding protein 2 (SECISBP2) mediates translational incorporation of selenocysteine into 25 known human selenoproteins, including iodothyronine deiodinases. Two unrelated male subjects, aged 36 years (P1) and 3.6 years (P2), exhibited markedly elevated free thyroxine (fT4), normal/low free triiodothyronine (fT3), but normal thyrotropin (TSH) levels, indicating reduced T4 to T3 conversion:<table b...

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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...

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Endocrine Abstracts

Weight gain, on the background of human PPARγ haploinsufficiency, exposes a metabolic phenotype

A multisystem selenoprotein disorder with a thyroid signature

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

BiosciAbstracts