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: Neuroimage. 2019; 197:493–501. PMID: 31077842.A large body of evidence suggests that the early environment can influence the health and wellbeing in children later in life. Variability in susceptibility to environmental stimuli might be mediated by interactions between genetic variations and the environment. The hypothalamic-pituitary adrenal (HPA) axis is th...

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...

Abstract: Lancet Diabetes Endocrinol. 2019 Feb;7(2):93–105.In brief: The study reports outcomes of a single-arm 7-year phase 2 extension trial of Asfotase alfa for infants and children with life-threatening hypophosphatasia who received a median of 6·6 years of therapy. The early improvements previously reported were sustained for up to 7 years of treatment.<p class...

To read the full abstract: Lancet Diabetes and Endocrinology 2018; 6: 114–121Cystic fibrosis (CF)-related diabetes (CFRD) impacts significantly on mortality and quality of life. Impaired glucose metabolism and CFRD are associated with poor weight and height gain and impaired lung function in children and adolescents (1). In that study, height and weight were lower in CF patients wit...

To read the full abstract: Circulation. 2019;139:1900–1912Numerous publications have reported that higher HbA1c levels relate to higher cardiovascular disease (CVD) risk in people with type 1 diabetes (T1D). However, the strength of association and optimal HbA1c levels are not established.This analysis of T1D patients recorded in the Swedish National Diabetes ...

To read the full abstract: J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047See Comment under 2.4....

To read the full abstract: J Clin Endocrinol Metab 2018;103:2009-2015Thyroid cancer in children and adolescents has a higher rate of regional and distant metastases, and recurrence rate than in adults. However, little is known about the molecular origin of thyroid carcinoma in children. DICER1 encodes for an endoribonuclease responsible for processing RNA into s...

To read the full abstract: J Clin Endocrinol Metab 2017; 102(11):4080-4088GH influences the structure and function of the heart. Untreated GHD adults have a worse cardiometabolic disease risk profile characterized by altered body composition, unfavorable changes in metabolism, reduced left ventricular mass and cardiac output and decreased exercise capacity [25-26]. GH...

To read the full abstract: J Pediatr 2017; 187:206-12SRS is a clinically heterogeneous imprinting disorder. Although the understanding of its genetic basis has gradually advanced, about 40% of patients still have an unknown molecular defect. In subjects with unknown etiology, diagnosis is primarily clinical, based upon the Netchine-Harbison scoring system (NH-CSS) [31]. How...