ESPE Yearbook of Paediatric Endocrinology

Brief summary: This randomized, multicenter, controlled, phase II study compared the effects of high-dose (HD) once-weekly PEGylated-recombinant human growth hormone (PEG-rhGH) to low-dose (LD) and to an untreated control group of children with idiopathic short stature (ISS) over a period of 52 weeks. PEG-rhGH was effective in increasing height gain in a dose dependent manner with both doses being well tolerated during the observation period.PEG-rhGH is ...

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...

To read the full abstract: J Adolesc Health. 2017 Jul;61(1):120-123Recent developments in assisted reproduction technologies (ART) have changed the scene for fertility wishes in a number of disorders, including GD. Fertility preservation is now routinely offered to postpubertal adolescent and adult GD patients at increasing numbers of medical centers. For biological boys, this is a non...

Nat Med. 2021 Dec;27(12):2104-2107. https://pubmed.ncbi.nlm.nih.gov/34887578/Brief Summary: This study used single-cell transcriptomic analyses to generate a cell atlas of the human fetal and neonatal small intestine. Notably, the authors identified a subset of fetal enteroendocrine K/L cells (named FIKL) that express high levels of insulin and other beta cell genes.T...

Cell Stem Cell. 2021 Sep 2;28(9):1657-1670.e10. doi: 10.1016/j.stem.2021.04.006. PMID: 33961804.Brief Summary: The authors established a novel protocol to generate hypothalamic arcuate organoids from human induced pluripotent stem cells, which could be utilized to investigate the arcuate nuclei development and the underlying mechanism of arcuate nucleus-related diseases. <p class="abst...

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...

Brief Summary: Rare forms of diabetes (‘monogenic diabetes’) are caused by a single rare gene variant, while adult-onset T2D is influenced by thousands of common genetic variants. This study reveals that youth-onset T2D shares some genetic features with both monogenic and typical adult-onset T2D, marked by both common and rare genetic variantsComment: A significant challenge is understanding why the course of T2D in children and teenagers is mo...

Brief Summary:Heterozygous, de novo variants in KIF5B are identified in 4 individuals with osteogenesis imperfecta. Studies of these KIF5B variants in C. elegans and cell models reveal the disease-causing mechanism. KIF5B seems important for intracellular trafficking and mTOR signaling to maintain skeletal homeostasis.Several years after the description of the last new osteogenesis imperfecta (OI)-related gene, the authors repo...