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ey0017.2-7 | Neonatal Diabetes Mellitus | ESPEYB17

2.7. De novo mutations in EIF2B1 affecting eif2 signaling cause neonatal/early-onset diabetes and transient hepatic dysfunction

E De Franco , R Caswell , MB Johnson , MN Wakeling , A Zung , VC Dung , CT Bich Ngoc , R Goonetilleke , M Vivanco Jury , M El-Khateeb , S Ellard , SE Flanagan , D Ron , AT Hattersley

To read the full abstract: Diabetes. 2020 Mar;69(3):477483. doi: 10.2337/db19-1029. Epub 2019 Dec 27. PMID: 31882561Endoplasmic recticulum (ER) stress plays an important role in the etiology of several forms of diabetes mellitus. There is evidence that ER stress plays a role in both type 1 and type 2 diabetes. More importantly molecular defects in the ER stress pathway are linked to monoge...

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ey0017.8-10 | New Hope | ESPEYB17

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

N Pode-Shakked , A Blau , B Pode-Shakked , D Tiosano , N Weintrob , O Eyal , A Zung , F Levy-Khademi , Y Tenenbaum-Rakover , D Zangen , D Gillis , O Pinhas-Hamiel , N Loewenthal , L de Vries , Z Landau , M Rachmiel , A Abu-Libdeh , A Eliakim , D Strich , I Koren , A German , J Sack , S Almashanu

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 31723180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

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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;8:594605. 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

2.7. De novo mutations in EIF2B1 affecting eif2 signaling cause neonatal/early-onset diabetes and transient hepatic dysfunction

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

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

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