ESPE Yearbook of Paediatric Endocrinology

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...

To read the full abstract: Sci Rep 2020;10:6935.In brief: A well-defined and optimized protocol using confocal microscopy allowed novel insight into growth plate chondrocyte differentiation by quantitative analysis of cellular characteristics of murine growth plate samples.Commentary: The growth plate is a complex tissue with a unique morphology char...

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,8 (2020): dgaa162. doi: https://academic.oup.com/jcem/article/105/8/dgaa162/5813981This longitudinal study (n =16) suggests that responses to kisspeptin administration could predict later pubertal outcomes for patients with delayed puberty. The management of...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz255. PMID: 31825489.P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive variant of congenital adrenal hyperplasia (CAH) arising from homozygous or compound heterozygous mutations to the gene encoding the enzyme P450 oxidoreductase (POR ) (1). Patients with PORD have a range of skeletal malformation...

To read the full abstract: Proc Natl Acad Sci U S A 2019;116(27):13670–13679. doi: https://pubmed.ncbi.nlm.nih.gov/31213533/In this paper, Perry et al. studied several animal models to disentangle the mechanism by which leptin suppresses hunger. In rats, the hyperphagia induced by a 48 h fast, or a hypoglycemic hyperinsulinemic clamp, or uncontrolled diabetes, was completely s...

To read the full abstract: J Clin Invest 2020;130(4):2001–16.In this study, Perry et al used their well-established animal model of fasted rats to unravel how feeding induces hyperthermia and energy expenditure.They showed that intracerebroventricular injection of leptin normalized fasting induced low plasma epinephrine and norepinephrine levels and body temperat...

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...