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1.10. The effects of common genetic variation in 96 genes involved in thyroid hormone regulation on TSH and FT4 concentrations

RBTM Sterenborg , TE Galesloot , A Teumer , RT Netea-Maier , D Speed , ME Meima , WE Visser , JWA Smit , RP Peeters , M Medici

Brief summary: The so far largest GWAS study on thyroid function in 72167 individuals testing 8 million genetic variants identified 92 common genetic variants associated with variation of TSH and FT4 in the reference range. These variants explained 21% of the variance in normal thyroid function, however many identified variants were localized in genes without obvious link to thyroid function (1). This GWAS paper was commented in the 2019 Yearbook. The same research team ...

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ey0017.3-12 | Clinical trials for thyroid disease | ESPEYB17

3.12. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

S Groeneweg , RP Peeters , C Moran , A Stoupa , F Auriol , D Tonduti , A Dica , L Paone , K Rozenkova , J Malikova , A van der Walt , IFM de Coo , A McGowan , G Lyons , FK Aarsen , D Barca , IM van Beynum , MM van der Knoop , J Jansen , M Manshande , RJ Lunsing , S Nowak , CA den Uil , MC Zillikens , FE Visser , P Vrijmoeth , MCY de Wit , NI Wolf , A Zandstra , G Ambegaonkar , Y Singh , YB de Rijke , M Medici , ES Bertini , S Depoorter , J Lebl , M Cappa , L De Meirleir , H Krude , D Craiu , F Zibordi , I Oliver Petit , M Polak , K Chatterjee , TJ Visser , WE Visser

To read the full abstract: Lancet Diabetes Endocrinol. 2019;7:695706.The hallmarks of MCT8 deficiency are severe psychomotor retardation due to intracellular hypothyroidism in neuronal tissues and peripheral T3 thyrotoxicosis associated low weight, muscle wasting, high normal or increased heart rate and systolic blood pressure. TRIAC the T3 analogue 3,3,5-tri-iodothyroacetic acid enters target cells in an MCT8 independe...

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ESPE Yearbook of Paediatric Endocrinology

1.10. The effects of common genetic variation in 96 genes involved in thyroid hormone regulation on TSH and FT4 concentrations

3.12. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

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