ESPE Yearbook of Paediatric Endocrinology

Front Genet. 2022 Mar 3;13:736988. PMID: 35309143, doi: 10.3389/fgene.2022.736988.Brief Summary: This molecular study highlights a novel mechanism of action of Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) in the development of testicular dysgenesis.MAP3K1 is one of the most common genes that has been identified to cause 46, XY DSD and variants are attribu...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

Cell Rep. 2022 Jan 25;38(4):110298. doi: 10.1016/j.celrep.2022.110298Brief Summary: This study describes the cryo-EM structure of human ATP Binding Cassette Subfamily G Member 1 (ABCG1) in complex with cholesterol. The authors propose a structural mechanism whereby cholesterol is recruited from cell membranes by sphingomyelin and loaded on nascent HDL particles.ABC...

J Clin Endocrinol Metab. 2020 Oct 1;105(10):3243–3249 Abstract: https://pubmed.ncbi.nlm.nih.gov/32721016/In brief: X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and osteomalacia. The study used retrospective, pre-burosumab growth data from four different studies and constructed growth charts that demonstrate that the growth rate of children with...

PLoS One. 2020 Jun 26;15(6):e0234970. doi: 10.1371/journal.pone.0234970.In brief: Metabolite signatures were compared between children with normal weight, obesity, and both obesity and T2DM, by measuring 273 analytes in fasting plasma and a 24-hour urine sample. Twenty-two urine metabolites were uniquely associated with T2DM. Adolescents with T2DM have altered purine nucleoti...

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...

Department of Epidemiology, School of Public Health, Brown University, Providence, Rhode Island, USAcatherine.buck@yale.edu Obesity (Silver Spring). 2021 Jun;29(6):1036–1045. doi: 10.1002/oby.23160. https://pubmed.ncbi.nlm.nih.gov/34029449/Brief Summary: This longitudinal study assessed the ass...

Brief summary: A four centre prospective longitudinal study of 315 transgender and non-binary adolescents in the USA showed improvement in gender congruence and appearance and some reduction of depression and anxiety (but not in birth-registered males) after 2 years of gender affirming hormone (GAH) treatment.The race is on to provide clear evidence to support hormonal intervention for transgender adolescents. This longitudinal study employed a number of...

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 ...

Nat Commun. 2020 Aug 13;11(1):4063. doi: 10.1038/s41467-020-17890-2. PMID: 32792525.These researchers proposed the heterogeneity of hypothalamic neural progenitor cells. Other than traditional hypothalamic radial glial (hRG) cells, which are predominantly located in the ventricular zone, there are additional basal progenitors in the mantle zone, which are named as hypothalamic mantle zo...