ESPE Yearbook of Paediatric Endocrinology

In Brief: Growth plate and articular cartilage have similar structures composed of distinct chondrocyte layers but they differ substantially with respect to their function and fate. This study combines transplantation experiments with cell tracing in rat with in vitrostudies to identify a novel mechanism by which synoviocytes act directly on chondrocytes to suppress endochondral and promote articular cartilage at the joint surface.Commentary: Gr...

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...

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...

Brief Summary: This study explored the relationship between Somatostatin Receptor 2 (SSTR2) immunoreactivity and succinate dehydrogenase complex iron sulfur subunit B (SDHB) immunoreactivity, mutational status, and clinical behavior of paragangliomas (PPGLs), and evaluated SSTR-based therapies in metastatic PPGLs. The findings highlight SSTR2 expression as a novel biomarker for metastatic behavior in PCC, PGL and SDHB/ SDHx mutations. They also suggest that SSTR-based therapie...

In Brief: The authors harness large-scale genetic and DNA methylation datasets in an epigenome-wide Mendelian randomization approach, to identify CpG sites that appear to be causally related to aging-related traits. These sites are collated to produce 2 epigenetic clocks: DamAge has adverse impacts on age-related outcomes, including mortality. AdaptAge appears to confer beneficial adaptations.Steve Horvath and others originally described various epigenet...

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 ...