ISSN 1662-4009 (online)

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...

ey0015.9-8 | Growth, growth hormone and puberty in chronic diseases: novel insights from clinical practice | ESPEYB15

9.8 Growth and weight gain in children with juvenile idiopathic arthritis: results from the ReACCh-Out cohort

J Guzman , T Kerr , LM Ward , J Ma , K Oen , AM Rosenberg , BM Feldman , G Boire , K Houghton , P Dancey , R Scuccimarri , A Bruns , AM Huber , K Watanabe Duffy , NJ Shiff , RA Berard , DM Levy , E Stringer , K Morishita , N Johnson , DA Cabral , M Larché , RE Petty , RM Laxer , E Silverman , P Miettunen , AL Chetaille , E Haddad , L Spiegel , SE Turvey , H Schmeling , B Lang , J Ellsworth , SE Ramsey , J Roth , S Campillo , S Benseler , G Chédeville , R Schneider , SML Tse , R Bolaria , K Gross , D Feldman , B Cameron , R Jurencak , J Dorval , C LeBlanc , C St Cyr , M Gibbon , RSM Yeung , CM Duffy , LB Tucker

To read the full abstract: Pediatr Rheumatol Online J. 2017Aug 22;15(1):68This large prospective study analysed growth in children with JIA during a 3-year period from diagnosis. Interesting findings emerge: the heights and weights of these patients, clearly compromised in historical cohorts, appeared nearly normal. Increased risk of growth impairment was noted in patients with systemic arthr...

ey0020.13-1 | Section | ESPEYB20

13.1. Taurine deficiency as a driver of aging

P Singh , K Gollapalli , S Mangiola , D Schranner , MA Yusuf , M Chamoli , SL Shi , B Lopes Bastos , T Nair , A Riermeier , EM Vayndorf , JZ Wu , A Nilakhe , CQ Nguyen , M Muir , MG Kiflezghi , A Foulger , A Junker , J Devine , K Sharan , SJ Chinta , S Rajput , A Rane , P Baumert , M Schonfelder , F Iavarone , G di Lorenzo , S Kumari , A Gupta , R Sarkar , C Khyriem , AS Chawla , A Sharma , N Sarper , N Chattopadhyay , BK Biswal , C Settembre , P Nagarajan , KL Targoff , M Picard , S Gupta , V Velagapudi , AT Papenfuss , A Kaya , MG Ferreira , BK Kennedy , JK Andersen , GJ Lithgow , AM Ali , A Mukhopadhyay , A Palotie , G Kastenmuller , M Kaeberlein , H Wackerhage , B Pal , VK Yadav

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...

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 ...

ey0018.6-2 | Basic and Genetic Research of DSD | ESPEYB18

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

C Eozenou , N Gonen , MS Touzon , A Jorgensen , SA Yatsenko , L Fusee , AK Kamel , B Gellen , G Guercio , P Singh , S Witchel , AJ Berman , R Mainpal , M Totonchi , A Mohseni Meybodi , M Askari , T Merel-Chali , J Bignon-Topalovic , R Migale , M Costanzo , R Marino , P Ramirez

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):13680–13688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

ey0018.8-7 | Important for Clinical Practice | ESPEYB18

8.7. Targeted metabolomics as a tool in discriminating endocrine from primary hypertension

Z Erlic , P Reel , S Reel , L Amar , A Pecori , CK Larsen , M Tetti , C Pamporaki , C Prehn , J Adamski , A Prejbisz , F Ceccato , C Scaroni , M Kroiss , MC Dennedy , J Deinum , K Langton , P Mulatero , M Reincke , L Lenzini , AP Gimenez-Roqueplo , G Assie , A Blanchard , MC Zennaro , E Jefferson , F Beuschlein

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1111–1128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...

ey0018.9-1 | Cancer treatment and the risk of second neoplasia | ESPEYB18

9.1. Risk factors of subsequent central nervous system tumors after childhood and adolescent cancers: findings from the french childhood cancer survivor study

NMY Journy , WS Zrafi , S Bolle , B Fresneau , C Alapetite , RS Allodji , D Berchery , N Haddy , I Kobayashi , M Labbe , H Pacquement , C Pluchart , B Schwartz , V Souchard , C Thomas-Teinturier , C Veres , G Vu-Bezin , I Diallo , F de Vathaire

Cancer Epidemiol Biomarkers Prev. 2021; 30: 133–141. https://pubmed.ncbi.nlm.nih.gov/33033142/This retrospective study of 152 patients and 604 matched-controls within the FCCSS (French Childhood Cancer Survivor Study) cohort aimed to identify clinical and therapeutic factors associated with long-term risk of subsequent primary neoplasm (SPN) in the central nervous system (CNS), occurri...

ey0018.9-6 | Surveillance strategies of endocrine complications | ESPEYB18

9.6. Female reproductive function after treatment of childhood acute lymphoblastic leukemia

R Roshandel , M van Dijk , A Overbeek , G Kaspers , C Lambalk , C Beerendonk , D Bresters , M van der Heiden-van der Loo , M van den Heuvel-Eibrink , L Kremer , J Loonen , H van der Pal , C Ronckers , W Tissing , B Versluys , F van Leeuwen , M van den Berg , E van Dulmen-den Broeder

Pediatr Blood Cancer. 2021; 68: e28894. https://pubmed.ncbi.nlm.nih.gov/33459500/This cross-sectional observational study examined reproductive function in a nationwide cohort of female childhood acute lymphoblastic leukemia (ALL) survivors.Self-reported reproductive characteristics (age at menarche, virginity status, desire for children, pregnancy rates, and adverse ...

ey0018.12-11 | Metabolic Syndrome | ESPEYB18

12.11. The effect of green Mediterranean diet on cardiometabolic risk; a randomised controlled trial

G Tsaban , A Yaskolka Meir , E Rinott , H Zelicha , A Kaplan , A Shalev , A Katz , A Rudich , A Tirosh , I Shelef , I Youngster , S Lebovitz , N Israeli , M Shabat , D Brikner , E Pupkin , M Stumvoll , J Thiery , U Ceglarek , JT Heiker , A Korner , K Landgraf , M von Bergen , M Bluher , MJ Stampfer , I Shai

Heart. 2020 Nov 23:heartjnl-2020-317802. doi: 10.1136/heartjnl-2020-317802. PMID: 33234670.In brief: This parallel-arm trial randomly assigned 294 adults with abdominal obesity/dyslipidemia to 1 of 3 dietary guidelines: healthy diet; Mediterranean diet; or ‘green Mediterranean’ diet. All groups received physical activity guidelines. Weight loss was higher in the two...

ey0019.10-9 | Advances in clinical practice | ESPEYB19

10.9. Comparison of insulin dose adjustments made by artificial intelligence based decision support system and by physicians in people with type 1 diabetes using multiple daily injections therapy

R Nimri , A Tirosh , I Muller , Y Shtrit , I Kraljević , MM Alonso , T Milicic , B Saboo , A Deeb , A Christoforidis , Brinker M den , L Bozzetto , AM Bolla , M Krcma , RA Rabini , S Tabba , A Vazeou-Gerasimidi , G Maltoni , E Giani , I Dotan , IF Liberty , Y Toledano , O Kordonouri , N Bratina , K Dovc , T Biester , E Atlas , M Phillip

Diabetes Technol Ther. 2022;24:564-572. doi: https://pubmed.ncbi.nlm.nih.gov/35325567/Brief Summary: This physician survey-based study compared insulin dose recommendations between an artificial intelligence-based decision support system (ED-DSS) and 20 experienced physicians from 11 countries. Using data from 17 individuals with type 1 diabetes (T1D) treated with multiple daily insulin inj...