ESPE Yearbook of Paediatric Endocrinology

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...

To read the full abstract: Nat Commun. 2020;11(1):1841. Published 2020 Apr 15. doi: https://pubmed.ncbi.nlm.nih.gov/32296068/This study by Kullmann et al. investigated the impact of brain insulin resistance on medium and long-term changes in body weight and body fat in adults at high risk for T2DM, undergoing a 24-months lifestyle intervention program (n =28 at the 24-mont...

To read the full abstract: BMJ. 2018 Jan 10;360:j5644On the basis of scientific evidence and dietary recommendations, several diet quality scores have been developed to evaluate the healthfulness of dietary patterns. Previous studies show that improvement in adherence to healthy dietary patterns is associated with less weight gain (2, 3, 4). But, until now, no study had assessed the interaction betwe...

Brief summary: This translational study highlights the importance of 2 novel endocytic receptors that are involved in cellular androgen uptake and in the pathogenesis of androgen insensitivity syndrome (AIS) type II.Steroids circulate in complex with plasma transfer proteins, and specific endocytic receptors can mediate cellular uptake of transfer protein/ligand complexes. Reduced intracellular hormone concentrations resulting from impaired hormone uptak...

Brief summary: This meta-analysis examined the association of autism spectrum disorders (ASD) with cardiometabolic diseases. The study included 276 173 individuals with autism and found a 69.4% higher relative risk of dyslipidemia, indicating higher risks of heart disease and stroke. The risk of type 2 diabetes mellitus (T2D) was 247% higher in individuals with autism, and the risk of type 1 diabetes mellitus (T1D) was 64% higher. Genetic factors, obesity, and autoimmune disea...

J Clin Endocrinol Metab. 2021 Jul 13;106(8):2279-2290. doi: 10.1210/clinem/dgab331. PMID: 33982055.Brief Summary: This prospective birth cohort study assessed the impact of maternal glycaemia on infant neurodevelopment at 12 months of age. Maternal glucose levels during pregnancy were associated with infant neurodevelopmental outcomes.High maternal blood glucose levels m...

Epigenomics. 2021 Aug;13(15):1221-1230. doi: 10.2217/epi-2021-0096. PMID: 34337972.Brief Summary: This case cohort study assessed whether epigenetic factors explain the link between gestational diabetes mellitus (GDM) and macrosomia. Epigenetic changes in the MEST gene were associated with both GDM and macrosomia.GDM leads to neonatal macrosomia and in the long-t...

T1DI Study Group. Nat Commun. 2022 Mar 21;13(1):1514. https://pubmed.ncbi.nlm.nih.gov/35314671/Brief Summary: This study of 5 birth cohorts of individuals at high risk for type 1 diabetes (T1D) used machine learning methods to explore trajectories from autoantibodies appearance to T1D progression. They identified 11 distinct latent health states and individuals progressed according to one o...

To read the full abstract: Kidney Int 2017;92:599-611Klotho was originally identified as a senescence-related protein because mice carrying hypomorphic Klotho alleles (kl/kl) develop premature aging with low bone turnover and osteoporosis. Primary function of Klotho is to form a specific receptor complex with fibroblast growth factor (FGF) receptor 1 (FGFR1) through which it mediates the bio...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...