ESPE Yearbook of Paediatric Endocrinology

Nat Med. 2020 Sep;26(9):1375–1379. doi: 10.1038/s41591-020-1007-0. PMID: 32778826.In brief: A subtype of autism arising from a cluster of genes that regulate both cholesterol metabolism and brain development was identified by integrating multiple data modalities.Comment: Autism spectrum disorder (ASD) is now estimated to affect 1:54 children ...

To read the full abstract: Endocr Rev 2018;39:3,333This review is interesting for several reasons. It focuses on a specific type of cells lining the wall of the third ventricle in the median eminence of the hypothalamus. This region acts both as a secretor of neuropeptides and as a sensor of the metabolic status of the periphery. These two functions imply a bidirectional physiological pathway: br...

To read the full abstract: Endocrinology 2017 Aug 1;158(8):2543-2555Maternal obesity and gestational diabetes (GDM) are associated with a higher risk for maternal, and offspring complications and appear to be mediated at least partly by an aberrant placental morphology and function, with altered nutrient transport capacities. The human placenta adapts to mild maternal diabetes by limiting placent...

Nat Rev Endocrinol. 2021 Feb;17(2):114–129. doi: 10.1038/s41574-020-00437-2. PMID: 33247226.We highly recommend this comprehensive review by Prodam et al. to everyone as a starter to this chapter. How many of you knew that hypopituitarism in humans was first described just over 100 hundred years ago? The authors of this excellent review divide the causes of hypopituitarism...

Endocr Rev. 2020;41:873–84. doi: 10.1210/endrev/bnaa022.Over the last decades, the treatment of Graves’ disease has been limited to antithyroid drugs, radioactive iodine ablation or surgery. Especially in the paediatric age group, all three therapeutic options have their advantages and side effects.New therapeutic options focus on the immune-pathophysiology ...

J Clin Endocrinol Metab. 2021 Nov 19;106(12):e5075-e5087. doi: 10.1210/clinem/dgab528. PMID: 34272865.Brief Summary: This national birth registry study in Denmark collected data on gestational diabetes and adverse pregnancy outcomes in relation to country of origin of the mother. Country of origin and the number of births were associated with adverse effects from gestational diabetes.<p cl...

J Bone Miner Res 36, 2300–2308. (2021)Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34346115/In brief: The genetic basis of human body height is only partly understood. This study combined genome-wide association study (GWAS) data with expression data from specific chondrocyte populations to identify genes responsible for skeletal growth. They found strong a...

Diabetes Care 2021;44:1898-1905. https://pubmed.ncbi.nlm.nih.gov/34285100/Brief Summary: This systematic review and meta-analysis of 46 studies and 6,468 participants (aged <20 years) provides evidence that youth with type 1 diabetes (T1D) have reduced lower body mineral density (BMD), as assessed by multiple modalities: DXA, peripheral quantitative computed tomography (pQCT), and/or qu...

shenali.amaratunga@fnmotol.cz Horm Res Paediatr 2022; 95:1–11. doi: 10.1159/000521210Brief Summary: This review highlights the value of consanguinity in the discovery of novel genes for three endocrine conditions with increasing pathophysiological complexity: congenital hyperinsulinism, monogenic diabetes and short stature.<p class="abstex...

Nat Hum Behav. 2022;6(1):97-110. doi: 10.1038/s41562-021-01169-7. PubMed ID: 34413509Brief summary: This cross-sectional study of adults (N=702) aged 58–98 measured cognitive abilities across a range of domains (alerting, orienting and executive inhibitory networks) by use of a computer-based Attention Network Test. In non-linear regression models, while efficiency of the ale...