ISSN 1662-4009 (online)

ey0015.12-2 | New Paradigm | ESPEYB15

12.2 Childhood BMI and Adult Type 2 Diabetes, Coronary Artery Diseases, Chronic Kidney Disease, and Cardiometabolic Traits: A Mendelian Randomization Analysis

T Geng , CE Smith , C Li , T Huang

To read the full abstract: Diabetes Care 2018;41:1089-1096These findings show that a 1-SD increase in childhood BMI was associated with a 47–83% increased relative risk of T2DM and a 28% increased relative risk of CAD in adult life, yet childhood BMI was not associated with adult chronic kidney disease. This is the first study to examine the causal relationship between childhood BMI and cardio-...

ey0017.11-15 | New Insight into Bariatric Surgery | ESPEYB17

11.15. 5-year mental health and eating pattern outcomes following bariatric surgery in adolescents: a prospective cohort study

Jarvholm , G Bruze , M Peltonen , C Marcus , CE Flodmark , P Henfridsson , AJ Beamish , E Gronowitz , J Dahlgren , J Karlsson , T Olbers

To read the full abstract: Lancet Child Adolesc Health. 2020;4(3):210–19. PMID 31978372.In this non-randomized matched-control study, 81 obese adolescents undergoing Roux-en-Y gastric bypass surgery (RYGB) who participated in the Adolescent Morbid Obesity Surgery (AMOS) study (11) were compared with 80 obese controls from the Swedish Childhood Obesity Treatment Register (BORIS) who rec...

ey0018.10-1 | (1) | ESPEYB18

10.1. Did the COVID-19 lockdown affect the incidence of pediatric type 1 diabetes in Germany?

SR Tittel , J Rosenbauer , C Kamrath , J Ziegler , F Reschke , J Hammersen , K Monkemoller , A Pappa , T Kapellen , RW Holl , Initiative DPV

Diabetes Care. 2020;43(11):e172–e173. doi: 10.2337/dc20-1633During the first phase of the COVID-19 pandemic, the DPV (the German diabetes registry database) study group asked whether or not the COVID-19 lockdown had affected the incidence of pediatric T1D in Germany (1). More than 210 German pediatric diabetes centers contributed their data on pediatric patients with T1D with an onset at ag...

ey0019.6-5 | Basic and Genetic Research of DSD | ESPEYB19

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

D Cicek , N Warr , G Yesil , Eker H Kocak , F Bas , S Poyrazoglu , F Darendeliler , G Direk , N Hatipoglu , M Eltan , Abali Z Yavas , Tosun B Gurpinar , SB Kaygusuz , Menevse T Seven , D Helvacioglu , S Turan , A Bereket , R Reeves , M Simon , M Mackenzie , L Teboul , A Greenfield , T Guran

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 1–9 cases per 100,000 live-births. GD can be classified as either complete...

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...

ey0019.10-5 | New paradigms | ESPEYB19

10.5. Heterogeneity of type 1 diabetes at diagnosis supports existence of age-related endotypes

T. Harkonen Parviainen , Ilonen J. , But A. , M. Knip and

Diabetes Care. 2022 Apr 1;45(4):871-879. https://pubmed.ncbi.nlm.nih.gov/35147706/Brief Summary: This Finnish cross-sectional register-based study of 6015 youth with new onset type 1 diabetes (T1D) explored potential differences in clinical, autoimmune and genetic characteristics across three age groups: <7, 7-12 and ≥13 years. Significant differences emerged primarily between the...

ey0017.10-2 | (1) | ESPEYB17

10.2. Lower incidence rate of type 1 diabetes after receipt of the rotavirus vaccine in the United States, 2001-2017

MAM Rogers , T Basu , C Kim

To read the full abstract: Sci Rep. 2019 Jun 13;9(1):7727As outlined in paper 10.1, intrauterine and early neonatal infections with a number of viruses are thought to contribute to the incidence of type 1 diabetes (T1DM) later in life. Amongst the viruses to be considered, enteroviruses have been found to be the most important. It is therefore important to know whether vaccination against enteroviruses would reduce the incidence of autoimmune di...

ey0015.1-7 | Mechanism update | ESPEYB15

1.7 Fgf10(+) progenitors give rise to the chick hypothalamus by rostral and caudal growth and differentiation

T Fu , M Towers , MA Placzek

To read the full abstract: Development 2017;144:3278-3288This article from Plazek’s laboratory describes a subpopulation of cells which express Fgf10 that are the precursors of the posterior pituitary gland. Importantly, these Fgf10 positive cells migrate rostrally to form the anterior hypothalamic region, but also migrate caudally to form the mammillary hypothalamic region. Cell lineage traci...

ey0015.4-10 | New perspectives | ESPEYB15

4.10 Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

NN Hauer , H Sticht , S Boppudi , C Büttner , C Kraus , U Trautmann , M Zenker , C Zweier , A Wiesener , RA Jamra , D Wieczorek , J Kelkel , AM Jung , S Uebe , AB Ekici , T Rohrer , A Reis , HG Dörr , CT. Thiel

To read the full abstract: Sci Rep 2017; 22(7):12225The GH/IGF1 axis has historically been considered the most relevant regulator of growth. However, defects in the GH/IGF1 axis can be identified only in a minority of children with short stature. Human growth is dependent on chondrocyte proliferation and hypertrophy as well as structure and function of extracellular matrix in the gro...

ey0018.2-5 | Neonatal hypoglycaemia | ESPEYB18

2.5. SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism.

V Lithovius , J Saarimaki-Vire , D Balboa , H Ibrahim , H Montaser , T Barsby , T Otonkoski

Diabetologia. 2021 Mar;64(3):630-640. doi: 10.1007/s00125-020-05346-7. PMID: 33404684.The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provided these authors a unique opportunity to study the molecular basis of CHI and to develop potential novel treatment options by screening...