ISSN 1662-4009 (online)

ey0018.4-12 | New Perspectives | ESPEYB18

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

ey0018.6-12 | Reviews with Clinical Impact for DSD Care | ESPEYB18

6.12. Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action 'DSDnet' and European Reference Network on Rare Endocrine Conditions

TH Johannsen , AM Andersson , SF Ahmed , YB de Rijke , RF Greaves , MF Hartmann , O Hiort , PM Holterhus , NP Krone , A Kulle , ML Ljubicic , G Mastorakos , J McNeilly , AM Pereira , A Saba , SA Wudy , KM Main , A Juul

Eur J Endocrinol. 2020 Jun;182(6):P1–P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH)...

ey0018.8-1 | Mechanism of the year: neuropeptide substance P regulates aldosterone secretion | ESPEYB18

8.1. The neuropeptide substance P regulates aldosterone secretion in human adrenals

J Wils , C Duparc , AF Cailleux , AG Lopez , C Guiheneuf , I Boutelet , HG Boyer , C Dubessy , S Cherifi , B Cauliez , F Gobet , G Defortescu , JF Menard , E Louiset , H Lefebvre

Nat Commun. 2020;11(1): 2673.https://pubmed.ncbi.nlm.nih.gov/32471973/The authors conducted an experimental study in male human volunteers to examine the effects of a neurokinin type 1 receptor (NK1R) antagonist on aldosterone secretion. The findings show the presence of Substance P (SP)-positive nerve fibres in the human adrenal cortex in the vicinity of aldosterone-producing cells and wit...

ey0018.9-13 | Cardiometabolic risk in chronic disease | ESPEYB18

9.13. Biomarkers of cardiometabolic complications in survivors of childhood acute lymphoblastic leukemia

S Morel , P Leveille , M Samoilenko , A Franco , J England , N Malaquin , V Tu , GB Cardin , S Drouin , F Rodier , S Lippe , M Krajinovic , C Laverdiere , D Sinnett , G Lefebvre , E Levy , V Marcil

Sci Rep. 2020 Dec 9; 10: 21507. https://pubmed.ncbi.nlm.nih.gov/33299020/This cross-sectional study of 246 childhood acute lymphoblastic leukemia (cALL) survivors aimed to analyze the relationships between various blood biomarkers and cardiovascular risk, and to test the link between endotoxemia and cardiometabolic complications. A high leptin-adiponectin ratio was associated with obesity, ...

ey0018.10-8 | (1) | ESPEYB18

10.8. Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should Lead to testing for MODY: lessons from a 5-year pediatric Swedish National Cohort study

A Carlsson , M Shepherd , S Ellard , M Weedon , A Lernmark , G Forsander , K Colclough , Q Brahimi , C Valtonen-Andre , SA Ivarsson , H Elding Larsson , U Samuelsson , E Ortqvist , L Groop , J Ludvigsson , C Marcus , AT Hattersley

Diabetes Care. 2020; 43:82–89. doi: 10.2337/dc19-0747.It is often difficult to identify maturity-onset diabetes of the young (MODY) in pediatric patients close to diabetes onset. Hence, misdiagnosis and unnecessary insulin treatment are still common.This study reports the discriminatory clinical features at diabetes onset in Swedish pediatric patients (age 1–18 y...

ey0018.11-1 | The COVID 19 pandemic and obesity | ESPEYB18

11.1. Characteristics of hospitalized children with SARS-CoV-2 in the New York city metropolitan area

S Verma , R Lumba , HM Dapul , G Gold-von Simson , CK Phoon , JL Lighter , JS Farkas , A Vinci , A Noor , VN Raabe , D Rhee , M Rigaud , PV Mally , TM Randis , B Dreyer , AJ Ratner , CS Manno , A Chopra

Hosp Pediatr. 2021 Jan;11(1):71–78. 10.1542/hpeds.2020-001917. https://pubmed.ncbi.nlm.nih.gov/33033078/In a cohort of 82 children (0–21 years) who were hospitalised for severe SARS-CoV-2 associated respiratory illness, obesity was the strongest risk factor for the outcome of critical care. Already during the first COVID-19 wave...

ey0018.11-5 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.5. Obesity treatment effect in danish children and adolescents carrying melanocortin-4 receptor mutations

C Trier , M Hollensted , TM Schnurr , MAV Lund , TRH Nielsen , G Rui , EA Andersson , M Svendstrup , DS Bille , AP Gjesing , CE Fonvig , C Frithioff-Bojsoe , M Balslev-Harder , S Quan , M Gamborg , O Pedersen , L Angquist , JC Holm , T Hansen

Int J Obes (Lond). 2021;45(1):66–76. doi: https://doi.org/10.1038/s41366-020-00673-6This study investigated the influence of MC4R variants on treatment effectiveness in a large cohort undergoing an outpatient treatment program. Carriers of MC4R loss-of-function (LoF) variants showed a lack of improvement in BMI, in contrast to non LoF carriers.As we learn th...

ey0018.12-6 | Type 2 Diabetes | ESPEYB18

12.6. Adolescent BMI and early-onset type 2 diabetes among Ethiopian immigrants and their descendants: a nationwide study

M Simchoni , U Hamiel , O Pinhas-Hamiel , I Zucker , T Cukierman-Yaffe , M Lutski , E Derazne , Z Beer , D Behar , L Keinan-Boker , O Mosenzon , D Tzur , A Afek , A Tirosh , I Raz , G Twig

Cardiovasc Diabetol. 2020 Oct 6;19(1):168. 10.1186/s12933-020-01143-z. PMID: 33023586.In brief: The impact of immigration on the risk of early-onset T2DM (before age 40 years) was assessed in a nationwide cohort. Data on 93 806 native Israelis and 27 684 Israelis of Ethiopian origin, assessed at a mean age 17.5 years, were linked to the Israeli National Diabetes Registry. After adjustment fo...

ey0018.12-9 | Metabolic Syndrome | ESPEYB18

12.9. Sugar-Induced obesity and insulin resistance are uncoupled from shortened survival in drosophila

E Van Dam , LAG van Leeuwen , E Dos Santos , J James , L Best , C Lennicke , AJ Vincent , G Marinos , A Foley , M Buricova , JB Mokochinski , HB Kramer , W Lieb , M Laudes , A Franke , C Kaleta , HM Cocheme

Cell Metab. 2020; 31(4):710–725.e7. doi: 10.1016/j.cmet.2020.02.016. PMID: 32197072.In brief: High-sugar diets cause thirst, obesity and metabolic dysregulation, leading to insulin resistance, the MetS, T2DM and shortened lifespan. This study shows that high sugar diets induce dehydration in adult Drosophila. Water supplementation fully rescued the shortened lifespan, but ...

ey0018.12-12 | Metabolic Syndrome | ESPEYB18

12.12. Effect of a high protein/low glycaemic index diet on insulin resistance in adolescents with overweight/obesity - a preview randomized clinical trial

E Dorenbos , M Drummen , T Adam , J Rijks , B Winkens , JA Martinez , S Navas-Carretero , G Stratton , N Swindell , P Stouthart , K Mackintosh , M Mcnarry , A Tremblay , M Fogelholm , A Raben , M Westerterp-Plantenga , A Vreugdenhil

Pediatr Obes. 2021 Jan;16(1):e12702. doi: 10.1111/ijpo.12702. PMID: 32681547.In brief: This randomized parallel trial, conducted in the Netherlands, the United Kingdom and Spain, assessed the impact of a high protein/low glycaemic diet vs. medium protein/medium glycaemic diet in reducing insulin resistance in 126 adolescents with overweight/obesity (mean age 13.6±2.2 years). At 2 ...