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ey0020.3-16 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.16. A saturated map of common genetic variants associated with human height

L Yengo , S Vedantam , E Marouli , J Sidorenko , E Bartell , S Sakaue , M Graff , AU Eliasen , Y Jiang , S Raghavan , J Miao , JD Arias , SE Graham , RE Mukamel , CN Spracklen , X Yin , SH Chen , T Ferreira , HH Highland , Y Ji , T Karaderi , K Lin , K Lull , DE Malden , C Medina-Gomez , M …(See abstract for full author list) Machado

In Brief: This comprehensive genome-wide association study (GWAS) identified over 20 000 loci associated with adult height. This groundbreaking research revealed that up to 21% of the human genome can be linked to variation in human height, providing a deeper understanding of the complex regulation of human height.Commentary: This one of the largest GWAS to date involving 5.4 million individuals. It discovered 12 111 independent SNPs associated with adul...

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ey0020.8-5 | Important for Clinical Practice | ESPEYB20

8.5. Impact of the COVID-19 pandemic on long-term trends in the prevalence of diabetic ketoacidosis at diagnosis of paediatric type 1 diabetes: an international multicentre study based on data from 13 national diabetes registries

NH Birkebaek , C Kamrath , JM Grimsmann , K Aakesson , V Cherubini , K Dovc , C de Beaufort , GT Alonso , JW Gregory , M White , T Skrivarhaug , Z Sumnik , C Jefferies , T Hortenhuber , A Haynes , M De Bock , J Svensson , JT Warner , O Gani , R Gesuita , R Schiaffini , R Hanas , A Rewers , AJ Eckert , RW Holl , O Cinek

Brief summary: This international multicentre study collected data from 104 290 children and adolescents (6 months-18 years-old), to compare prevalence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) before and during the COVID-19 pandemic. Prevalence of DKA at T1D diagnosis increased from 27.3% pre-pandemic to 39.4% during the pandemic, and the increased trends were associated with the pandemic containment measures.DKA is a life-thr...

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ey0020.8-12 | New Mechanisms | ESPEYB20

8.12. ZnT8 loss-of-function accelerates functional maturation of hESC-derived beta cells and resists metabolic stress in diabetes

Q Ma , Y Xiao , W Xu , M Wang , S Li , Z Yang , M Xu , T Zhang , ZN Zhang , R Hu , Q Su , F Yuan , T Xiao , X Wang , Q He , J Zhao , ZJ Chen , Z Sheng , M Chai , H Wang , W Shi , Q Deng , X Cheng , W Li

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...

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ey0021.6-10 | New Clinical Insights into Klinefelter Syndrome | ESPEYB21

6.10. Detection of chromosomal aneuploidy in ancient genomes

K Anastasiadou , M Silva , T Booth , L Speidel , T Audsley , C Barrington , J Buckberry , D Fernandes , B Ford , M Gibson , A Gilardet , I Glocke , K Keefe , M Kelly , M Masters , J McCabe , L McIntyre , P Ponce , S Rowland , J Ruiz Ventura , P Swali , F Tait , D Walker , H Webb , M Williams , A Witkin , M Holst , L Loe , I Armit , R Schulting , P Skoglund

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...

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ey0021.8-12 | Clinical Trials – New Treatments | ESPEYB21

8.12. Ultradian hydrocortisone replacement alters neuronal processing, emotional ambiguity, affect and fatigue in adrenal insufficiency: the PULSES trial

G Russell , K Kalafatakis , C Durant , N Marchant , J Thakrar , R Thirard , J King , J Bowles , T Upton , NJ Thai , JCW Brooks , A Wilson , K Phillips , S Ferguson , M Grabski , CA Rogers , T Lampros , S Wilson , C Harmer , M Munafo , SL Lightman

Brief Summary: This 6-week randomized, crossover, double blind, placebo-controlled feasibility trial assessed the effect of subcutaneous pump hydrocortisone on the quality of life, mood, functional neuroimaging, behavioral/cognitive responses, sleep and metabolism in adults with primary adrenal insufficiency (PAI) compared to standard therapy.Comment: Adrenal glucocorticoid secretion is characterized by a complex diurnal variation, formed by changes in p...

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ey0018.2-11 | Neonatal diabetes mellitus | ESPEYB18

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco , M Lytrivi , H Ibrahim , H Montaser , MN Wakeling , F Fantuzzi , K Patel , C Demarez , Y Cai , M Igoillo-Esteve , C Cosentino , V Lithovius , H Vihinen , E Jokitalo , TW Laver , MB Johnson , T Sawatani , H Shakeri , N Pachera , B Haliloglu , MN Ozbek , E Unal , R Yıldırım , T Godbole , M Yildiz , B Aydin , A Bilheu , I Suzuki , SE Flanagan , P Vanderhaeghen , V Senee , C Julier , P Marchetti , DL Eizirik , S Ellard , J Saarimaki-Vire , T Otonkoski , M Cnop , AT Hattersley

J Clin Invest. 2020 Dec 1;130(12):63386353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...

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ey0019.15-4 | Diabetes | ESPEYB19

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

A Wesolowska-Andersen , CA Brorsson , R Bizzotto , A Mari , A Tura , R Koivula , A Mahajan , A Vinuela , JF Tajes , S Sharma , M Haid , C Prehn , A Artati , MG Hong , PB Musholt , A Kurbasic , F De Masi , K Tsirigos , HK Pedersen , V Gudmundsdottir , CE Thomas , K Banasik , C Jennison , A Jones , G Kennedy , J Bell , L Thomas , G Frost , H Thomsen , K Allin , TH Hansen , H Vestergaard , T Hansen , F Rutters , P Elders , L t'Hart , A Bonnefond , M Canouil , S Brage , T Kokkola , A Heggie , D McEvoy , A Hattersley , T McDonald , H Teare , M Ridderstrale , M Walker , I Forgie , GN Giordano , P Froguel , I Pavo , H Ruetten , O Pedersen , E Dermitzakis , PW Franks , JM Schwenk , J Adamski , E Pearson , MI McCarthy , S Brunak , Consortium ID

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...

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ey0015.2-2 | International consensus on Beckwith-Wiedemann Syndrome | ESPEYB15

International consensus on Beckwith-Wiedemann Syndrome

F Brioude , JM Kalish , A Mussa , AC Foster , J Bliek , GB Ferrero , SE Boonen , T Cole , R Baker , M Bertoletti , G Cocchi , C Coze , M De Pellegrin , K Hussain , A Ibrahim , MD Kilby , M Krajewska-Walasek , CP Kratz , EJ Ladusans , P Lapunzina , Y Le Bouc , SM Maas , F Macdonald , K Õunap , L Peruzzi , S Rossignol , S Russo , C Shipster , A Skórka , Tatton-Brown , J Tenorio , C Tortora , K Grønskov , I Netchine , RC Hennekam , D Prawitt , Z Tümer , T Eggermann , DJG Mackay , A Riccio , ER Maher

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...

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ey0018.1-9 | Genetics | ESPEYB18

1.9. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

EJ Lodge , P Xekouki , TS Silva , C Kochi , CA Longui , FR Faucz , A Santambrogio , JL Mills , N Pankratz , J Lane , D Sosnowska , T Hodgson , AL Patist , P Francis-West , F Helmbacher , C Stratakis , CL Andoniadou

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

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ey0018.2-8 | Neonatal diabetes mellitus | ESPEYB18

2.8. Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

P Bowman , F Mathews , F Barbetti , MH Shepherd , J Sanchez , B Piccini , J Beltrand , LR Letourneau-Freiberg , M Polak , SAW Greeley , E Rawlins , T Babiker , NJ Thomas , E De Franco , S Ellard , SE Flanagan , AT Hattersley , Neonatal Diabetes International Collaborative Group

Diabetes Care. 2021 Jan;44(1):3542. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...

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ESPE Yearbook of Paediatric Endocrinology

3.16. A saturated map of common genetic variants associated with human height

8.5. Impact of the COVID-19 pandemic on long-term trends in the prevalence of diabetic ketoacidosis at diagnosis of paediatric type 1 diabetes: an international multicentre study based on data from 13 national diabetes registries

8.12. ZnT8 loss-of-function accelerates functional maturation of hESC-derived beta cells and resists metabolic stress in diabetes

6.10. Detection of chromosomal aneuploidy in ancient genomes

8.12. Ultradian hydrocortisone replacement alters neuronal processing, emotional ambiguity, affect and fatigue in adrenal insufficiency: the PULSES trial

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

International consensus on Beckwith-Wiedemann Syndrome

1.9. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

2.8. Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

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