ESPE Yearbook of Paediatric Endocrinology

Diabetologia. 2020;63(4):780–787. doi: 10.1007/s00125-019-05077-4.This multicenter multinational study, in children with high genetic risk of T1D, identified an association between lower serum 25-hydroxyvitamin D (25OHD) concentrations and subsequent appearance of islet autoimmunity or T1D.The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) ancillary ...

Pediatr Res. 2021; 92(1):265-274. doi: 10.1038/s41390-021-01739-5. PMID: 34556810https://pubmed.ncbi.nlm.nih.gov/34556810/Brief Summary: This study provides a detailed set of normative reference values for steroidogenesis during the first 6 months of life, which may facilitate rapid testing of infants for steroidogenic disorders.<p...

To read the full abstract: Nat Commun. 2019 Aug 16;10(1):3696. doi: 10.1038/s41467-019-11667-y. PMID: 31420539.The hypothalamic arcuate nucleus (ARC) controls crucial physiological processes, such as growth, reproduction and energy homeostasis. However, it is unknown how ARC neurons gain their unique cellular identities and what are their developmental relationships. Here, the authors i...

To read the full abstract: PLoS Genet. 2019 Dec 16;15(12):e1008530.In brief: This genome-wide association study in a cohort of healthy infants shows that, already during the first two years of life, genetic variation in the genes encoding Vitamin D binding protein and Vitamin D 25-hydroxylase correlate with serum 25(OH)D levels and responses to vitamin D supplementation.<p clas...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(5): 1427–1434. PMID: 31853550.GDF15 is a stress-induced hormone that acts in the hindbrain to activate neural circuits involved in aversive responses and reducing food intake and body weight in animal models (1). In humans, GDF15 is widely expressed, with highest concentrations seen in placental trophoblasts, followed by kid...

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: Nat Commun. 2020;11(1):1841. Published 2020 Apr 15. doi: https://pubmed.ncbi.nlm.nih.gov/32296068/This study by Kullmann et al. investigated the impact of brain insulin resistance on medium and long-term changes in body weight and body fat in adults at high risk for T2DM, undergoing a 24-months lifestyle intervention program (n =28 at the 24-mont...

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: 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 Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...