ESPE Yearbook of Paediatric Endocrinology

Curr Opin Pediatr 2018, 30:734–739. DOI: 10.1097/MOP.0000000000000683• Congenital hypothyroidism is the most cost-effective screened condition.• Screening for hemoglobinopathies and glucose-6-dehydrogenase deficiency can be cost-effective in sub-Saharan Africa, India and some parts of Asia where there is a high incidence of these diseases.<p...

To read the full abstract: Annals of Human Biology vol. 47,1 (2020): 18–24. doi: https://www.tandfonline.com/doi/full/10.1080/03014460.2020.1715476This cohort study identifies an association between pubertal timing in females and educational attainment as well as risk-taking behaviours in a Brazilian population during economic transition. <p class=...

To read the full abstract: J Clin Endocrinol Metab. 2019;104:2023–2030.A child born with birth weight and/or birth length less than 2 SDS below the mean for gestational age is defined as SGA [1]. This definition implies that rather than a specific diagnostic group, SGA children are a heterogenous population with different etiologies, growth patterns and metabolic outcomes. Most SGA ...

Brief summary: Genome-wide small hairpin RNA screening revealed a specialized role for the protein phospholipase D6 (PLD6) located at and highly expressed in the outer mitochondrial membrane of cells in steroidogenic organs. Here PLD6 promotes the entrance of LDL/LDLR complex into the mitochondria where LDL-carried cholesterol is released for steroid hormone biosynthesis.Thereby the mitochondrial redox-sensitive CISD2 protein was found to support the trafficking of the LDL/LDL...

Brief summary: This study investigates the effect of long-acting synthetic glucocorticoids on circadian rhythmicity and hippocampal functionGlucocorticoids exert their effects by binding to glucocorticoid receptors (GRs), which regulate up to ~20% of the genome via both direct (by binding to glucocorticoid responsive elements in promoter regions) and indirect mechanisms (by interacting with bound transcription factors and epigenetic modifiers) (1...

Nature 2019;567:187–193.URL https://doi.org/10.1038/s41586-019-0984-ySummary: Novel diagnostic and prognostic biomarkers in the blood that can predict early fatty liver disease were identified, using a proteomic and lipidomic-wide systems genetic approach in 107 genetically distinct mouse strains. In addition, the novel lipid-regulatory protein, PSMD9, was identified as...

To read the full abstract: J Pediatr. 2019 Dec;215:192–198.Identifying the diagnosis in children with syndromic short stature and those with recognized genetic growth disorders is often challenging, as they may share many clinical features (1)(2). The candidate gene approach has many limitations in unveiling the genetic cause. Therefore, whole exome sequencing (WES) has been proposed to improve the diagnostic rate in children with short sta...

Cell Metab 2021;33(2): 270–282.e8. doi: https://doi.org/10.1016/j.cmet.2020.11.008Brestoff et al. show, for the first time, that mitochondria are transferred from adipocytes to macrophages and that this event has an impact on systemic metabolic homeostasis.Within the last years, it has been demonstrated that cells are able to communicate with each other by the exchange of organell...

To read the full abstract: Mol Metab. 2017 Oct; 6(10): 1321–1329See comment on 11.7...

To read the full abstract: N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279.This remarkable case report - by authors from Boston Children’s Hospital and funded by Mila’s Miracle Foundation - describes the development and use of a patient-customised antisense oligonucleotide drug that was tailored specifically against the unique DNA sequence mutation in a 6-ye...