ISSN 1662-4009 (online)

ey0021.9-17 | Bone Health and Chronic Diseases | ESPEYB21

9.17. Fracture risk among children and adolescents with celiac disease: a nationwide cohort study

G Zacay , I Weintraub , R Regev , D Modan-Moses , Y Levy-Shraga

Brief Summary: This retrospective study evaluated fracture risk among 2372 children and adolescents (59% females, aged 1-16) with biopsy-proven celiac disease (CD) compared to 11,860 children without CD matched by age, sex, socioeconomic status, and population sector (general Jewish population, ultra-orthodox Jews and Arabs). The overall fracture incidence rate was higher in the CD group (256 vs 165 per 10,000 patient-years).Median age at the end of the ...

ey0021.10-12 | New Biomarkers | ESPEYB21

10.12. A set of circulating microRNAs belonging to the 14q32 chromosome locus identifies two subgroups of individuals with recent-onset type 1 diabetes

G Sebastiani , GE Grieco , M Bruttini , S Auddino , A Mori , M Toniolli , al. et

Brief Summary: Circulating microRNAs (miRNA) were measured using multiplatform sequencing in longitudinal samples from 262 individuals with newly diagnosed type 1 diabetes (T1D) enrolled in the INNODIA Natural History Study. A set of miRNAs located within the T1D susceptibility chromosomal locus 14q32 distinguished 2 groups of T1D: those with higher miRNA expression showed better glycemic outcomes and immunomics profile.MicroRNAs (miRNAs) are a class of ...

ey0021.11-4 | Interventions for Weight Loss: New Findings | ESPEYB21

11.4. Setmelanotide for the treatment of acquired hypothalamic obesity: a phase 2, open-label, multicentre trial

CL Roth , C Scimia , AH Shoemaker , M Gottschalk , J Miller , G Yuan , S Malhotra , MJ Abuzzahab

Brief Summary: This phase 2, open-label, multicenter trial examined the efficacy of setmelanotide, a melanocortin-4 receptor agonist, in patients aged 6 to 40 years with obesity due to hypothalamic injury. Setmelanotide reduced body mass index (BMI) and hunger levels in most participants; 89% achieved a reduction in BMI of at least 5% after 16 weeks. These results indicate that setmelanotide is a promising treatment for hypothalamic obesity.This phase 2 ...

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...

ey0019.3-7 | Congenital hypothyroidism | ESPEYB19

3.7. Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age

MC Vigone , R Ortolano , G Vincenzi , C Pozzi , M Ratti , V Assirelli , S Vissani , P Cavarzere , A Mussa , R Gastaldi , Mase R Di , M Salerno , ME Street , J Trombatore , G Weber , A Cassio

Eur J Endocrinol. 2021 Nov 30;186(1):45-52. doi: 10.1530/EJE-20-1444. PMID: 34714772Brief Summary: This retrospective multicenter study examined the biochemical and neurocognitive outcomes of n=254 patients with congenital hypothyroidism (CH) at age 3 years, treated with either LT4 drops (n=117) or LT4 tablets (n=137). Overall, neurocognitive outcome was not different between the two treatment gr...

ey0019.5-7 | Advances in clinical practice | ESPEYB19

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

CR Ferreira , K Kintzinger , ME Hackbarth , U Botschen , Y Nitschke , MZ Mughal , G Baujat , D Schnabel , E Yuen , WA Gahl , RI Gafni , Q Liu , P Huertas , G Khursigara , F Rutsch

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34355424/In brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...

ey0019.6-13 | Gender Incongruence: Growth and fertility in transgender girls | ESPEYB19

6.13. Adolescent transgender females present impaired semen quality that is suitable for intracytoplasmic sperm injection even before initiating gender-affirming hormone treatment

H Amir , L Perl , S Barda , D Lantsberg , AS Becker , G Israeli , F Azem , A. Ad Amir H Oren , L Perl , S Barda , D Lantsberg , AS Becker , G Israeli , F Azem , A Oren

Reprod Sci. 2022 Jan;29(1):260-269. PMID: 33788173, doi: 10.1007/s43032-021-00561-y. Brief Summary: This study from Israel investigated semen samples from 26 transgender girls aged 14-18 years and notes a general reduction in semen quality parameters. Fertility counselling is mandatory in all transgender adolescents prior to considering hormone interventions, but in ...

ey0019.8-12 | New Paradigms | ESPEYB19

8.12. Glucocorticoid-induced fingerprints on visceral adipose tissue transcriptome and epigenome

G Garcia-Eguren , M Gonzalez-Ramirez , P Vizan , O Giro , A Vega-Beyhart , L Boswell , M Mora , I Halperin , F Carmona , M Gracia , G Casals , M Squarcia , J Ensenat , O Vidal , Croce L Di , FA Hanzu

J Clin Endocrinol Metab. 2022; 107(1): 150-166. PMID: 34487152https://pubmed.ncbi.nlm.nih.gov/34487152/Brief Summary: This translational study determined the persistent visceral adipose tissue (VAT) transcriptomic alterations and epigenetic fingerprints induced by chronic hypercortisolism in patients with Cushing’s syndrome (CS) and in a reversible CS mouse model....

ey0019.12-4 | New data on complications of children with T2DM | ESPEYB19

12.4. Insulinopathies of the brain? Genetic overlap between somatic insulin-related and neuropsychiatric disorders

J. Fanelli G, Franke B, De Witte W, Ruisch IH, Haavik J, van Gils V, Jansen WJ, Vos SJB, Lind L, Buitelaar JK, Banaschewski T, Dalsgaard S, Serretti A, Mota NR, Poelmans G, Bralten

Translational psychiatry 2022;12(1):59. doi: 10.1038/s41398-022-01817-0Brief Summary: This population genetics study explored pairwise genome-wide genetic correlations between neuropsychiatric disorders with insulin-related somatic diseases and traits. There were likely protective effects of obsessive-compulsive disorder and anorexia nervosa on the risks of having MetS, obesity and T2DM; i...

ey0019.15-2 | Obesity | ESPEYB19

15.2. Postprandial glycaemic dips predict appetite and energy intake in healthy individuals

P Wyatt , SE Berry , G Finlayson , R O'Driscoll , G Hadjigeorgiou , DA Drew , HA Khatib , LH Nguyen , I Linenberg , AT Chan , TD Spector , PW Franks , J Wolf , J Blundell , AM Valdes

Nat Metab. 2021;3(4):523-9. doi: 10.1038/s42255-021-00383-x.PubMed ID: 33846643Brief summary: this study of around 1000 adults administered standard breakfast meals and showed wide variability and continuously monitored glucose levels up to 3 h afterwards. Notably, those individuals with lower glucose levels at 2 to 3 h after meals reported higher levels of appetite and consumed hundreds m...