ESPE Yearbook of Paediatric Endocrinology

Cell Stem Cell. 2021 Sep 2;28(9):1657-1670.e10. doi: 10.1016/j.stem.2021.04.006. PMID: 33961804.Brief Summary: The authors established a novel protocol to generate hypothalamic arcuate organoids from human induced pluripotent stem cells, which could be utilized to investigate the arcuate nuclei development and the underlying mechanism of arcuate nucleus-related diseases. <p class="abst...

Brief Summary: This study investigated the synthesis pathway of pregnenolone (PREG) in the central nervous system. It identified the P450 enzyme CYP1B1 to be responsible for the production of PREG in human glial cells.Comment: Steroids have important functions in the central and peripheral nervous systems, including modulation of behavior, pain, stress and inflammation. Steroids in the brain can be produced de novo, as well as transported from p...

To read the full abstract: Nat Commun 2019;10:163.Central estrogen signaling via estrogen receptor alpha (ERα) coordinates energy expenditure, reproduction and, in concert with peripheral estrogen, impacts skeletal homeostasis. Here, the authors showed that eliminating ERα in kisspeptin arcuate nucleus neurons resulted in high bone mass phenotype in female mice only.<p clas...

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...

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...

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...

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...