ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Science 2018;361:76–81.The tuberal nucleus (TN) is a hypothalamic region which is well described in humans but remains poorly defined in rodents. In this paper, the authors demonstrated by specific and sophisticated techniques the role of somatostatin expressing TN (TNSST) neurons in the control of food intake in mice. Interestingly, their resul...

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(28): E6576–E6584.It is accepted that aggressive behavior can be viewed as a strategy by humans and animals to cope with stress, implying that neurobiological mechanisms involved in stress responses should underlie both physiological and pathological aggression (15, 16). The hypothalamic–pituitary–adrenal ...

To read the full abstract: JAMA Pediatr 2018;172(7):646-654Vitamin D deficiency in infants can lead to impaired bone mineralization and rickets. Since the 1920s, vitamin D has been used to prevent and treat rickets, but the optimal supplementation dose for bone health was unclear. Similarly, potential extra-skeletal benefits of vitamin D in childhood have been inadequately explored. Ac...

In Brief: The authors use cell tracing approaches in a PRMT5flox/Δ Ctsk-Cre strain to label periosteal stem cells (PSCs) and show that PSCs are not only essential for intramembranous bone formation but also for endochondral bone formation. The study identifies the role of PSC derived indian hedgehog (Ihh) in maintaining growth plate homeostasis and postnatal skeletal growth.Commentary: The skeleton harbors stem cells in three independent ...

Brief Summary: This epigenome-wide association study (EWAS) aimed to identify differentially methylated positions (DMPs) and regions (DMRs) between Graves’ disease (GD) and Hashimoto’s disease (HD) in two independent patient cohorts from Australia (30 patients with GD and 30 with HD, discovery cohort) and Denmark (32 patients with GD and 32 with HD, replication cohort). Linear mixed models were used to test for differences in quantile-normalized β values of DNAm...

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 ...

Thyroid. 2022 May;32(5):496-504. doi: 10.1089/thy.2021.0685. Epub 2022 Mar 31. PMID: 35199588Brief Summary: This retrospective monocenter case-control study assessed levothyroxine requirements to achieve euthyroidism defined as two consecutive normal TSH measurements (0.3-4.7 mIU/L) separated by ≥ 6 weeks in adult patients with immune checkpoint inhibitor (ICI) associated permanent hypoth...

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: Diabetes Care. 2020 Mar;43(3):526–533. doi: 10.2337/dc19-1013. Epub 2020 Jan 13. PMID:31932458Neonatal diabetes mellitus (NDM) is defined as diabetes that develops in the first 6 months of age. In Western countries, the most common causes of NDM are activating mutations in the KCNJ11/ABCC8 genes. Neurological dysfunction is also common (up to 30%) in pati...

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...