ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet Respir Med. 2018 Mar 15. pii: S2213-2600(18)30058-4Inhaled corticosteroids (ICS) are recommended for adults and children with asthma, as well as for chronic obstructive pulmonary disease (COPD). Although ICS are generally well-tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients still develop systemic adverse effects....

To read the full abstract: Pediatr Blood Cancer. 2017;64(6):e26338Through a comprehensive, risk-based clinical assessment and validation of medical events, this study provides a detailed heath status characterization of adult survivors of paediatric non-Hodgkin lymphoma (NHL). Survivors showed an increased risk of suffering from one or more components of the metabolic syndrome (obesity 35%, hypertens...

To read the full abstract: Diabetes Care. 2017;40:1034-1040Researchers from The Children’s Hospital at Westmead, Sydney, Australia as well as scientists from institutions from three different continents, America, Europe and Australia have combined their data from large diabetes registries in order to: examine the prevalence of celiac disease (CD) in populations of patients with T1DM; investigat...

To read the full abstract: Lancet 2018; 391(10133):1939-1952See comment on 13.7...

Brief summary: This in vitro study reports that fully potent oocytes were generated from pluripotent stem cells of the tail of a sexually mature male mouse. These oocytes were able to give rise to offspring after fertilization.A particular challenge in the care of DSD patients in adulthood is the optimization of fertility potential. Fertility outcome is significantly reduced in all types of DSD depending on the underlying etiology as well as the...

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...

Brief summary: This observational study in three different cohorts found an increased risk for atherothrombotic disease associated with the commonly used sugar substitute erythritol. Untargeted metabolomics (in cohort 1, n=1157) and targeted metabolomics (in cohorts 2 and 3, n=2149 USA and n=833 Europe, respectively) investigations revealed an increased risk for major adverse cardiovascular events (MACE) including death, myocardial infarction and str...

J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. PMID: 32818257.This manuscript describes an unusual case of a baby born with a homozygous Nkx2.2 mutation who developed severe neonatal diabetes mellitus and then on follow up went onto develop severe obesity characterized by marked hyperphagia.Nkx2.2 is an important transcription factor...

J Clin Endocrinol Metab. 2021;106:e1231–e1239. doi: 10.1210/clinem/dgaa901.The results of this study are a robust argument to implement neonatal screening for central congenital hypothyroidism (CCH) worldwide. Only few countries, such as the Netherlands, screen for CCH. Neurodevelopmental outcome data are scarce for CCH compared to primary congenital hypothyroidism (PCH) not only becau...

Eur J Endocrinol. 2020;183:637–645. doi: 10.1530/EJE-20-0617.This study provides for the first time clear evidence that the block and replace (BR) strategy (combination of carbimazole plus levothyroxine) is not superior to the carbimazole dose titration (DT) strategy for treatment of paediatric Graves’ disease.Wood et al. present the first randomized c...