ESPE Yearbook of Paediatric Endocrinology

Brief summary: Grzelka et al. identified a hypothalamic circuit that regulates regain of body weight after weight loss.Body weight is one of the most regulated variables of our body, which is most likely due to the evolutionary history of times when access to food was scarce and volatile. Weight loss triggers a strong counterregulatory response. It increases the hunger drive and greatly increases the reward value of food, making it more difficul...

Brief summary: The AMOS2 study is a randomized, open label, multicentre trial. It reports 2-year BMI changes in n=25 adolescents (age 13–16 years) after metabolic and bariatric surgery (MBS) (Roux-en-Y gastric bypass n=23, sleeve gastrectomy n=2) compared to n=23 adolescents who received intensive non-surgical treatment. After 2 years, BMI change was −12.6 kg/m2 in the MBS group compared to only −0.2 kg/m2</s...

Brief summary: In this study of 699 youth 10 to < 18 years old with <2 years duration of type 2 diabetes (T2D) at 15 centers across the USA, baseline HbA1c level, and the change in HbA1c level in the first 6 months are predictors of rapid glycemic deterioration. In addition, subsequent loss of control can be predicted based on both baseline and ongoing clinical characteristics.Comment: The population of individuals with youth-onset T2D is heterog...

Lancet Diabetes Endocrinol. 2020 Dec;8(12):960–970.https://pubmed.ncbi.nlm.nih.gov/33137293/This article reports the results of two single-arm, open-label, multicentre, phase 3 trials of the MC4R agonist, setmelanotide, in patients with severe obesity due to pro-opiomelanocortin (POMC) deficiency or leptin receptor (LEPR) deficiency. Mean % change in bodyweight after ~1 year was &#8722...

Genet Med. 2021 Dec;23(12):2443-2447.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34341520/In brief: In achondroplasia, longitudinal bone growth is inhibited resulting in severe, disproportionate short stature. In this open-label extension study of participants from the phase 3 study, daily subcutaneous injection of vosoritide during 104 weeks resulted in increa...

Sci Transl Med. 2022 Apr 6;14(639):eabj9625; PMID 35385337 doi: 10.1126/scitranslmed.abj9625https://www.science.org/doi/10.1126/scitranslmed.abj9625Brief Summary: This international study, led by Dr. Stephens Williams from Boulder, Colorado, USA, developed a surrogate biomarker from 27 circulating proteins to predict ...

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542–551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...

To read the full abstract: Pediatr Rheumatol Online J. 2017Aug 22;15(1):68This large prospective study analysed growth in children with JIA during a 3-year period from diagnosis. Interesting findings emerge: the heights and weights of these patients, clearly compromised in historical cohorts, appeared nearly normal. Increased risk of growth impairment was noted in patients with systemic arthr...

Lancet. 2020 Sep 5;396(10252):684–692. Abstract: https://pubmed.ncbi.nlm.nih.gov/32891212/In brief: Activating mutations in FGFR3 inhibit endochondral ossification in achondroplasia resulting in disproportionate extreme short stature. In this randomised, double-blind, phase 3, placebo-controlled trial, once-daily subcutaneous treatment with vosoritide, a C-type natriuretic pep...

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...