ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 7 results

ey0019.3-10 | New genes | ESPEYB19

3.10. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

S Narumi , R Opitz , K Nagasaki , K Muroya , Y Asakura , M Adachi , K Abe , C Sugisawa , P Kuhnen , T Ishii , MM Nothen , H Krude , T Hasegawa

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...
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ey0015.3-7 | Congenital hypothyroidism | ESPEYB15

3.7 Mean high-dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism

PE Aleksander , M Bruckner-Spieler , AM Stoehr , E Lankes , P Kuhnen , D Schnabel , A Ernert , W Stablein , ME Craig , O Blankenstein , A Gruters , H Krude

To read the full abstract: J Clin Endocrinol Metab 2018;103:1459-1469The ESPE guidelines on CH recommend an initial LT4 dose of 10-15 microgram/kg per day1. Infants with severe CH, defined by a very low pretreatment TT4 or FT4 concentration, should be treated with the highest initial dose. However, little is known about long-term effects on developmental and...
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ey0020.1-13 | Pediatric Thyroid Cancer | ESPEYB20

1.13. 2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma

CA Lebbink , TP Links , A Czarniecka , RP Dias , R Elisei , L Izatt , H Krude , K Lorenz , M Luster , K Newbold , A Piccardo , M Sobrinho-Simoes , T Takano , AS Paul van Trotsenburg , FA Verburg , HM van Santen

Brief summary: American Thyroid Association Guidelines for management of children with thyroid nodules and differentiated thyroid cancer were published in 2015 (1). Now Lebbink et al. published management guidelines from the European Thyroid Association.Pediatric differentiated thyroid carcinoma is rare. For many aspects of the disease (diagnosis, treatment, follow-up) clear evidence from randomized controlled trials are therefore missing. The p...
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ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...
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ey0015.11-7 | New Developments in Monogenic Obesity | ESPEYB15

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

K Clément , H Biebermann , IS Farooqi , L Van der Ploeg , B Wolters , C Poitou , L Puder , F Fiedorek , K Gottesdiener , G Kleinau , N Heyder , P Scheerer , U Blume-Peytavi , I Jahnke , S Sharma , J Mokrosinski , S Wiegand , A Müller , K Weiß , K Mai , J Spranger , A Grüters , O Blankenstein , H Krude , P Kühnen

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...
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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;7:695–706.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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ey0018.3-13 | Clinical studies | ESPEYB18

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

S Groeneweg , FS van Geest , A Abacı , A Alcantud , GP Ambegaonkar , CM Armour , P Bakhtiani , D Barca , ES Bertini , IM van Beynum , N Brunetti-Pierri , M Bugiani , M Cappa , G Cappuccio , B Castellotti , C Castiglioni , K Chatterjee , IFM de Coo , R Coutant , D Craiu , P Crock , C DeGoede , K Demir , A Dica , P Dimitri , A Dolcetta-Capuzzo , MHG Dremmen , R Dubey , A Enderli , J Fairchild , J Gallichan , B George , EF Gevers , A Hackenberg , Z Halasz , B Heinrich , T Huynh , A Kłosowska , MS van der Knaap , MM van der Knoop , D Konrad , DA Koolen , H Krude , A Lawson-Yuen , J Lebl , M Linder-Lucht , CF Lorea , CM Lourenco , RJ Lunsing , G Lyons , J Malikova , EE Mancilla , A McGowan , V Mericq , FM Lora , C Moran , KE Muller , I Oliver-Petit , L Paone , PG Paul , M Polak , F Porta , FO Poswar , C Reinauer , K Rozenkova , TS Menevse , P Simm , A Simon , Y Singh , M Spada , J van der Spek , MAM Stals , A Stoupa , GM Subramanian , D Tonduti , S Turan , CA den Uil , J Vanderniet , A van der Walt , JL Wemeau , J Wierzba , MY de Wit , NI Wolf , M Wurm , F Zibordi , A Zung , N Zwaveling-Soonawala , WE Visser

Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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