ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Commun. 2018;9:4455.Here, the largest genome-wide association study (GWAS) to date on thyroid function and dysfunction, in 72,167 individuals testing 8 million genetic variants, substantially increased the number of loci that are involved in the regulation of thyroid function. It provides functional evidence that two newly identified genes are involved in t...

Cell. 2018; 175(2): 514–29 e20.URL: http://www.ncbi.nlm.nih.gov/pubmed/30220461Summary: The enigma of how cholesterol is transported within cells has been solved in these experimental mouse models and structural imaging studies by the discovery of the proteins Aster A, B and C, which serve as a molecular bridge for the transfer of cholesterol from the pl...

To read the full abstract: Dev Cell. 2018 Nov 5;47(3):294–305.e7.Steroid hormones were believed to enter target cells via passive diffusion through the plasma membrane. This article shows that, at least for Drosophila, steroid hormones require a protein transporter to enter cells.Genomic functions of steroid hormones are mediated by intracellular nuclear recep...

To read the full abstract: Endocrinology. 2018 Feb 1;159(2):1035-1049Placental insufficiency leads to intrauterine growth restriction (IUGR) which in the fetus leads to hypoxemia and hypoglycemia. IUGR fetuses are charaterised by having higher circulating catecholamine concentrations and lower circulating insulin concentrations, as well as impaired glucose stimulated insulin secretion. In cases o...

To read the full abstract: Cancer. 2018;124:2220-2227The Brief Coping Orientation to Problem Experience (brief COPE) questionnaire was designed to explore the coping strategies used by individuals in response to stress. It has been used to research various populations with chronic health conditions (1). ‘Betweenness centrality’ is a measure of centrality in a graph based on shortest path...

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...

Brief summary: In this cross-sectional study, Health related quality of life (HRQoL) was assessed in 50 adults of 4 Spanish hospitals with a previous diagnosis of small for gestational age (SGA) who had received growth hormone treatment (rhGH) during childhood. Tests revealed lower scores on mental health domains than on domains related to physical health. Remarkably, no correlation was found between HRQoL in adulthood and final height, rhGH treatment and timing of puberty.</p...

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...

Nat Commun. 2022 Feb 9;13(1):775. doi: 10.1038/s41467-022-28120-2. PMID: 35140214Brief Summary: This in vitro study identified interactions between distinct cell populations of the thyroid gland and immune cells in the context of Hashimoto thyroiditis. The authors provide important new insights into the pathological mechanism of Hashimoto thyroiditis by characterizing the stromal ...

Front Genet. 2022 Mar 3;13:736988. PMID: 35309143, doi: 10.3389/fgene.2022.736988.Brief Summary: This molecular study highlights a novel mechanism of action of Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) in the development of testicular dysgenesis.MAP3K1 is one of the most common genes that has been identified to cause 46, XY DSD and variants are attribu...