ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature 2020; 581, 434–443The Genome Aggregation Database (gnomAD) Consortium https://gnomad.broadinstitute.org compiled data on ˜125,000 exomes and ~15,000 whole genomes from populations around the world. This is one of seven articles (also see Refs 1–6) describing their initial discoveries, showing the power of this vast dataset, and presenting a more comp...

To read the full abstract: Elife 2019;8:e43999.Two populations of Kisspeptin neurons are described in the hypothalamus. One population is located in the rostral part of the hypothalamus (the anteroventral periventricular nucleus, AVPV); the other is in the arcuate nucleus (ARC). The major difference between these populations is the opposing effects of 17b-estradiol (E2) on Kiss1...

To read the full abstract: Am J Clin Nutr. 2019 Apr 4The study analyzed relationships between maternal obesity and human milk metabolites, infant body composition, and postnatal weight gain.Maternal obesity is one of the strongest predictors of childhood obesity. Although the mechanism/s by which this obesity risk is transmitted to the offspring are not known diffe...

To read the full abstract: Psychoneuroendocrinology. 2018 Dec 6;102:128–138.This study investigated whether maternal high fat diet (HFD) exposure during rat pregnancy and lactation can alter the hypothalamic-pituitary-adrenal (HPA) in adult male offspring.Maternal diet and metabolic status are important factors which influence the intrauterine and early postna...

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...

Eur J Endocrinol. 2018 Oct 12;179(5):R219–R237.doi: 10.1530/EJE-18-0227. PubMed ID: 30049812The rapidly increasing number of adolescents with gender dysphoria represents a challenge for psychiatric assessments and the endocrine management of those who are considered to warrant gender change. The diagnostics are more than complicated and the clinical management from ...

To read the full abstract: Nat Immunol. 2018; 19(9): 954–962.The immune system protects the host organism against infectious diseases, however, pathogen elimination frequently entails collateral tissue damage and inflammation, which decrease host fitness (1). Neuroendocrine-immune interactions play an important role in these regulatory processes (2, 3). Endogenous glucocorticoids (c...

To read the full abstract: J Pediatr. 2018 Jul;198:260–264This study aimed to analyze growth hormone (GH) doses and first-year growth response in prepubertal patients with the combination of type 1 diabetes (T1D) and growth hormone deficiency (GHD).A total of 69 patients with T1D and GHD treated with GH have been enrolled in KIGS (Pfizer International Growth D...

To read the full abstract: JAMA Pediatr. 2019;173(3):280–282.For many years, it has been put forward that enterovirus infections might precede type 1 diabetes onset and that there might be a link between the two diseases. This study simply shows that it is still not the time to draw firm and clear conclusions as to whether or not enteroviruses do play a role in the pathogenesis of a...

To read the full abstract: Cell. 2018; 175(3): 695–708This paper demonstrates for the first time the existence of extracellular vesicle (EV)-mediated signaling between cell types within the adipose tissue. The results of various experiments show a network of EV-mediated exchange of cellular material in adipose tissue. This newly discovered EV trafficking in adipose tissue...