ESPE Yearbook of Paediatric Endocrinology

TOPMed Anthropometry Working Group; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium et al. Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.Nat Genet. 2022 Mar;54(3):263-273.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35256806/In brief: Genome-wide association studies (GWAS) on unrelated individuals rely...

To read the full abstract: FASEB J. 2019, Jul; 33: 8423–35. doi: https://www.ncbi.nlm.nih.gov/pubmed/30991836Retinoic acid (RA) is essential for the regulation of many developmental events including germ cell differentiation. In the developing testis, tight spatiotemporal control of RA levels is maintained by the enzyme CYP26B1, which inactivates RA. CYP26B1 expres...

J Clin Oncol. 2022 Apr 1;40(10):1081-1090. doi: 10.1200/JCO.21.01861. Epub 2022 Jan 11. PMID: 35015563Brief Summary: This retrospective monocenter study of clinical, pathological and molecular analysis of n=113 children with differentiated thyroid cancer (DTC) showed that genetic analysis of DTC provided more accurate information on prognosis and outcome than classical histological categorizatio...

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...

To read the full abstract: Nat Med. 2017 Dec; 23(12): 1444–1453This study highlights the importance of asprosin in the regulation of appetite. This peptide hormone was first described by Romere et al. in 2016 (1), who reported 2 patients with neonatal progeroid syndrome (NPS) due to truncating heterozygous mutations in the fibrillin-gene (FBN1). The FBN1 gene encodes profibrillin wh...

To read the full abstract: N Engl J Med 2017;377:28-40We highlight this paper for 3 reasons. First, remarkably there are few robust data on effective treatment options for endometriosis. Subcutaneous GnRH antagonists are sometimes used off-label, but with very limited evidence. Secondly, the clear findings here confirm the pathogenesis of endometriosis as being driven by an over-act...

Cell. 2021 Mar 4;184(5):1330–1347.e13 Abstract: https://pubmed.ncbi.nlm.nih.gov/33636130/In brief: This paper reports an alternative cell fate for multinucleated, bone-resorbing osteoclasts and shows that they may undergo fission into smaller osteomorphs. The findings challenge the current dogma that osteoclasts primarily differentiate from hematopoietic progenitor cells and a...

bioRxiv March 25, 2019. doi: https://doi.org/10.1101/588020The Yearbook does not usually report on studies that are yet published only on ‘preprint’ servers, i.e. author-deposited versions of papers that have not been accepted or even peer-reviewed. However, Nature also made an exception for this paper (1)!These authors analysed whole genome sequen...