ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Thyroid. 2019;29:790–801.Patients with mutations in the dual oxidase 2 (DUOX2 ) gene – encoding a NADPH oxidase that generates hydrogen peroxidase for iodide organification – have been repeatedly reported as not being detected by neonatal screening because it causes only mild hyperthyrotropinemia at birth. Here, Peters et al. determined the incidence of DUOX2 and dual oxidase 2...

To read the full abstract: Clin Endocrinol (Oxf) 2020 May 13. doi: 10.1111/cen.14221. Online ahead of print.Children born either small for gestational age (SGA) or preterm usually do not achieve a final height (FH) in the mid-parental target height (MPTH) range, despite showing catch-up growth in the first years of life (1). The influence of intrauterine metabolic and hormonal factors has been p...

To read the full abstract: J Clin Med. 2020 Feb 19;9(2). pii: E562. e_rochette@chu-clermontferrand.frThis 5-month prospective case-control study was designed to evaluate the impairment of metabolic response to exercise in 20 childhood acute leukaemia survivors (CALSs), by the analysis of substrate oxidation during submaximal exercise, in comparison with 20 matched healthy controls.<p cla...

To read the full abstract: Cancer. 2020;126(1):202–210. nina.kadan-lottick@yale.eduWhile in healthy adults and children low BMD is associated with fracture risk, this relationship still needs to be clarified in childhood cancer survivors (CCS). This cross-sectional study analysed BMD and fracture history in 542 childhood leukaemia/lymphoma survivors, who received guideline-recommended DXA sur...

To read the full abstract: Proc Natl Acad Sci U S A 2019;116(27):13670–13679. doi: https://pubmed.ncbi.nlm.nih.gov/31213533/In this paper, Perry et al. studied several animal models to disentangle the mechanism by which leptin suppresses hunger. In rats, the hyperphagia induced by a 48 h fast, or a hypoglycemic hyperinsulinemic clamp, or uncontrolled diabetes, was completely s...

To read the full abstract: Science 2019;365:eaat9351.As in humans, weight gain in mice leads to fatty liver disease, inflammatory adipose tissue, and insulin resistance. The depletion of the microbiota through antibiotic treatment rescued this weight gain. The cohousing of T-Myd88–/– mice transferred the weight gain to wild-type mice. The major feature of the microbiota formed within T-Myd88–/– mice was a reduction in Clostri...

To read the full abstract: This genome-wide association study (GWAS) of 16,992 cases of anorexia nervosa and 55 525 controls identified 8 significant loci. The findings show that the genetic architecture of anorexia nervosa mirrors its clinical features, showing significant genetic correlations with psychiatric disorders (obsessive-compulsive disorder, depression, anxiety, and schizophrenia), physical activity, and metabolic (including glycemic), lipid and anthropometric trait...

To read the full abstract: Ann Neurol 2018;84:611–615This paper examined the concentrations of arginine vasopressin (AVP) and oxytocin (OXY) in the cerebrospinal fluid (CSF) of autistic children (n=36) compared to controls children without psychiatric disease who needed lumbar puncture for some medical reason (n=36). The authors hypothesized that if these neuropeptides are involved ...

To read the full abstract: Science 2019;363(6424).A wide range of human diseases result from haploinsufficiency, where gene expression is decreased as compared to normal conditions. Haploinsufficiency is a typical mechanism in autosomal dominant disorders. Rare mutations in Sim1 or Mc4r are models of haploinsufficiency causing severe early-onset obesity with hyperphagia...

Abstract: FASEB J. 2019;33:4962–4974.In brief: Glucocorticoid-induced growth impairment is reverted by the mitochondrial peptide humanin in dexamethasone-treated mice without attenuation of anti-inflammatory effects.Comment: Humanin (HN) is a 24 aminoacid peptide that was originally discovered as a neuroprotective factor and later shown ...