ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this multicenter, open-label, parallel-group, randomized trial, 97 adolescents (aged 10–16.9 years) were randomized within 21 days after the diagnosis of type 1 diabetes (T1D) to receive either hybrid closed-loop therapy or standard insulin therapy (control) for 24 months. Although closed-loop therapy was associated with better glycemic outcomes, there were no differences in C-peptide between the two groups.The Closed Loop from Ons...

Brief summary: The incidences of T1D and T2D in children and young people increased in the USA over the last 2 decades. For the first time, the incidence of T2D has surpassed that of T1D.Comment: The SEARCH study has served as a national resource to explore the epidemiology and consequences of diabetes in the US. Published over the years, the findings contribute to understanding future trends in other parts of the world. Overall, the current report shows...

Cell Metab. 2020 Dec 1;32(6):951–966.e8. 10.1016/j.cmet.2020.10.001. PMID: 33080217. https://www.sciencedirect.com/science/article/pii/S1550413120305349?via%3DihubIn brief: This study reveals the critical role of hypothalamic ceramide synthesis in the induction of precocious puberty in obe...

J Clin Invest. 2021 Sep 15;131(18):e144847. doi: 10.1172/JCI144847. PMID: 34237031Brief Summary: This retrospective analysis of clinical, pathologic, and genetic characteristics of n=106 children with differentiated thyroid carcinoma (DCT) showed that fusion oncogene associated papillary thyroid carcinoma (PTC) is more frequent in young children and is associated with larger tumors, extrathyroidal ...

Circulation, 2022: Jun 21;145(25):1853-1866 PMID: 35616058Brief Summary: This translational study evaluated cardiac health and lifespan in two cardiomyocyte-specific transgenic mice with either enhanced or reduced IGF-1 signaling and in human cardiac biopsies from failing and nonfailing hearts. Increased IGF1R expression was related to better cardiac performance in young mice but faster decline of cardiac function with aging. Conversely reduced ...

N Engl J Med. 2022 Jan 20;386(3):209-219. https://pubmed.ncbi.nlm.nih.gov/35045227/Brief Summary: This multicenter, randomized, crossover trial in 74 very young children (age: 1-7 years) with type 1 diabetes (T1D) tested the safety and efficacy of a hybrid closed-loop system for insulin delivery (CamAPS FX) compared with sensor-augmented pump therapy over 16 weeks. The hybrid closed-loop sy...

eLife 2022;11:e71094 doi: 10.7554/eLife.71094Brief summary: Using placental perfusion, placental fragment culture and primary term human cytotrophoblast culture experiments, the authors signify the relationship between maternal vitamin D, placental vitamin D metabolism and fetal vitamin D exposure.In this study, the uptake of radio-labelled vitamin D (13C-25(OH)D...

N Engl J Med. 2021;385(17):1581-92. doi: 10.1056/NEJMoa2103329.PubMed ID: 34614324Brief Summary: The authors performed whole exome sequencing in 2548 children with severe obesity and identified 22 GNAS mutation carriers, almost all of which disrupted melanocortin 4 receptor (MC4R) signaling.The gene GNAS encodes the stimulatory G-protein alpha subunit pr...

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...

To read the full abstract: JAMA. 2019;322(6):514–523. doi: 10.1001/jama.2019.10329Some children have a high genetic risk to develop type 1 diabetes (T1DM) and/or celiac disease. However, environmental factors may modify such risks. One arm of the TEDDY study assessed the influence of high gluten intakes on the development of celiac disease in genetically high risk children.<p clas...