ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Pediatr Endocrinol Metab 2018; 31(6):601-608This article summarizes the findings of likely the largest program of neonatal congenital hypothyroidism (CH) screening in the world. This is a truly impressive effort. The overall incidence of CH was 1/2421, in line with other reports that also observed a relatively high incidence of CH in neonates born in Asia. However, a...

To read the full abstract: Nat Genet. 2018 Mar;50(3):432-442Maternal obesity is associated with poor outcomes across the reproductive spectrum including infertility, increased time to pregnancy, early pregnancy loss, congenital abnormalities and neonatal complications. Adverse effects are detectable as early as the oocyte and preimplantation embryo stage, and that these early effects may cont...

Mol Cell Endocrinol. 2021 May 1;527:111218. doi: 10.1016/j.mce.2021.111218. PMID: 33636254This study used a high fat and high sucrose diet to generate obese mice. The offspring of these mice showed activation of the unfolding protein response and the heat-shock response in the hypothalamus as early as weaning. This was associated with malformed paraventricular nucleus axonal projections ...

J Bone Miner Res. 2022 Feb;37(2):179-184.Abstract: https://pubmed-ncbi-nlm-nih-gov/34464000/In Brief: Fibroblast growth factor 23 (FGF23) and parathyroid hormone (PTH) both negatively regulate serum phosphate by increasing renal phosphate excretion. The clinical observation that both PTH and FGF23 are needed for adequate renal phosphate handling is confirmed in this experimental patient stu...

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: Front Endocrinol (Lausanne) 2017;8:170Increasing sedentary behaviours and availability of high energy dense processed foods are the obvious culprits to explain the trends towards more overweight and obese populations around the world. However, we should remember that many other hypotheses are proposed, including higher ambient room temperatures due to ce...

In Brief: The authors of this large international project describe the generation of ‘Zoonomia’, which is a large comparative genomics resource covering 240 different mammalian species. Among their many findings, the authors use this resource to: i) document the vast range of biodiversity on earth, ii) identify 3.6 million genomic sites that are perfectly conserved across species, indicating genes and regulatory regions that are likely essential for mammalian surviva...

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...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...