ISSN 1662-4009 (online)

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):35–42. 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...

ey0018.2-13 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.13. Predictors of neonatal adiposity and associations by fetal sex in women with gestational diabetes mellitus and normal glucose-tolerant women

K Benhalima , A De Landtsheer , P Van Crombrugge , C Moyson , J Verhaeghe , H Verlaenen , C Vercammen , T Maes , E Dufraimont , C De Block , Y Jacquemyn , A Laenen , R Devlieger , C Minschart , C Mathieu

Acta Diabetol. 2021 Mar;58(3):341–354. doi: 10.1007/s00592-020-01619-0. PMID: 33216207.The key findings of this multi-centre prospective cohort study were that neonates born to mothers treated for Gestational diabetes mellitus (GDM) (by lifestyle or medication, e.g. insulin or metformin) had high rates of macrosomia but similar adiposity to those born of mothers with normal glucose...

ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

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...

ey0018.12-12 | 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 ...

ey0018.15-8 | (1) | ESPEYB18

15.8. Anti-Mullerian hormone levels and risk of type 2 diabetes in women

Verdiesen Renee MG , Onland-Moret N Charlotte , van Gils Carla H , Stellato Rebecca K , Spijkerman Annemieke MW , Picavet H Susan J , Broekmans Frank JM , Verschuren WM Monique , van der Schouw Yvonne T

Diabetologia, 2021; 64, 375–384.https://link.springer.com/article/10.1007/s00125-020-05302-5#Abs1The authors measured plasma anti-Müllerian hormone (AMH) levels over 2x 5-year intervals in a prospective cohort study of 3293 healthy women aged 20–59 years at baseline. Lower baseline age-specific AMH levels were associated with a higher risk of Type 2 di...

ey0019.1-1 | Basic Science and Stem Cells | ESPEYB19

1.1. Deciphering the spatial-temporal transcriptional landscape of human hypothalamus development

X Zhou , Y Lu , F Zhao , J Dong , W Ma , S Zhong , M Wang , B Wang , Y Zhao , Y Shi , Q Ma , T Lu , J Zhang , X Wang , Q Wu

Cell Stem Cell. 2022 Feb 3;29(2):328-343.e5. doi: 10.1016/j.stem.2021.11.009. PMID: 34879244.Brief Summary: By applying single-cell RNA sequencing (scRNA-seq) to 112,376 cells of human hypothalamus ranging from 7–20 gestational weeks (GW7–20), the authors produced a spatiotemporal transcriptome atlas of human hypothalamus development and revealed critical regulatory genes control...

ey0019.2-5 | Neonatal hypoglycaemia | ESPEYB19

2.5. PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

MA Shahrour , FM Lasorsa , V Porcelli , I Dweikat , MA Di Noia , M Gur , G Agostino , A Shaag , T Rinaldi , G Gasparre , F Guerra , A Castegna , S Todisco , B Abu-Libdeh , O Elpeleg , L Palmieri

J Clin Endocrinol Metab. 2021 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. PMID: 34971397.Brief Summary: This is a case report of a potentially new genetic disorder that causes hyperinsulinaemic hypoglycemia, protein sensitivity and high serum ammonia level (Hyperinsulinism/hyperammonemia syndrome (HI/HA) syndrome). Mutations in the solute the carrier family 25, member 36 (SLC25A36) may b...

ey0019.4-8 | Long-acting growth hormone (LAGH) | ESPEYB19

4.8. Weekly lonapegsomatropin in treatment-naive children with growth hormone deficiency: the phase 3 height trial

PS Thornton , AK Maniatis , E Aghajanova , E Chertok , E Vlachopapadopoulou , Z Lin , W Song , E Dam Christoffersen , VM Breinholt , T Kovalenko , E Giorgadze , M Korpal-Szczyrska , PL Hofman , DB Karpf , AD Shu , Beckert M. Michael

J Clin Endocrinol Metab, 2021. 106(11): p. 3184-3195. PMID: 34272849Brief Summary: This randomized, open-label, controlled, phase 3 trial compared the effects of once-weekly long-acting GH lonapegsomatropin versus daily GH in GHD children over a period of 52 weeks. Efficacy was evaluated by height velocity (HV) and height gain from baseline to end. The long-acting formulation showed not only non-inferiority but also superior efficacy compared to...