ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

To read the full abstract: Nature 2020;580:235–238.These authors applied modern protein analysis to an ancient molar from a male Homo antecessor dated to 772–949 thousand years ago (kya) from the Sierra de Atapuerca in Burgos, Spain and also to dentine and enamel from a Homo erectus dated to 1770 kya. They found that the composition of these proteomes is similar to that of modern humans, including enamel-specific amel...

To read the full abstract: Nat Commun 2019;10:343This paper reports many loci associated with chronotype (i.e. being a ‘morning person’ or ‘evening person’) in a genome-wide association study (GWAS) of 697, 828 participants from the UK Biobank and 23andMe cohorts. The link between chronotype and sleep timing and quality is well known. It was therefore interestin...

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542–551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...

JAMA. 2018 Sep 11;320(10):1005–1016. doi: 10.1001/jama.2018.11628.The aims of this study were to assess whether in utero exposure to untreated gestational diabetes (using the IADPSG criteria) is associated with long-term risk of a disorder of glucose metabolism among mothers and greater adiposity among their children at 10 to 14 years post-partum.The Hyperglycem...

To read the full abstract: Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10758–E10767.The authors show for the first time that central AMP-activated protein kinase (AMPK), the major cellular energy sensor, interplays with Kiss1 to control puberty onset.AMPK is an indispensable cellular energy sensor (1). Beside its ability to directly sense ener...

To read the full abstract: N Engl J Med. 2018 Jun 14;378(24):2275–2287Neurological complications of diabetic ketoacidosis (DKA) are still causes of significant mortality and morbidity in type 1 diabetes (T1D). Children are still being reported with acute cerebral infarction (CI) and extra pontine myelinolysis (EPM) at onset of T1D (1). Frequently, their clinical management had not b...

Pediatr Diabetes. 2019 May 29. doi: 10.1111/pedi.12872. [Epub ahead of print]There might be many benefits arising from the artificial pancreas and other new technologies to deliver insulin and measure glucose levels. Whether or not such technological advances will improve the lives of children and families needs to be answered.This study surveyed the experiences of parent...

To read the full abstract: Nat Comm 2019; 10(1): 1718Steroid receptor coactivator (SRC)-1 mediates nuclear hormone receptors and transcription factor-dependent transcription (1), and interacts with STAT3 (2) an important mediator of leptin-induced POMC expression and hence satiety (3). Src-1 knockout mice are obese (4), however, the underlying mechanism is unclear. In a...

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...