ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Science 2018;361:76–81.The tuberal nucleus (TN) is a hypothalamic region which is well described in humans but remains poorly defined in rodents. In this paper, the authors demonstrated by specific and sophisticated techniques the role of somatostatin expressing TN (TNSST) neurons in the control of food intake in mice. Interestingly, their resul...

Bone Miner Metab. 2021 Sep;39(5):851-857Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34115219/In brief: Vitamin D plays a pivotal role in calcium homeostasis and bone health; a question is therefore frequently raised regarding the risk of fractures in children with vitamin D deficiency. This is more pertinent in safeguarding cases where it is not uncommon to fin...

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...

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...

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...

To read the full abstract: Nature. 2018 Jul;559(7714):405–409This article decries a CRISPR-Cas9 genome-targeting system that does not require viral vectors, allowing rapid and efficient insertion of large DNA sequences at specific sites in the genomes of primary human T cells, while preserving cell viability and function.The common approach to genetically...