ESPE Yearbook of Paediatric Endocrinology

Science 2021;372(6544): 808–814 doi: https://doi.org/10.1126/science.abf7958Isreali et al. describe the molecular structure of the melanocortin 4 receptor (MC4R) complexed with its effector G protein (Gs alpha) and setmelanotide, a pharmacological agonist of MC4R.MC4R is a known key element in body weight regulation, connecting response to leptin with inhibition o...

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...

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...

Sci Adv. 2022; 8(16): eabn8485. PMID: 35442744https://pubmed.ncbi.nlm.nih.gov/35442744/Brief Summary: This histologic and transcriptomic study of human and primate adrenal tissue samples provides a molecular framework to understand the fetal development of the adrenal gland.The adrenal cortex is the major source of steroid hormones that drive a plethora of critical ph...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

Reports Medicine 2021;2(11):100446. doi: 10.1016/j.xcrm.2021.100446Brief Summary: This mouse study validated a novel, safe treatment with ANGPTL3 peptide vaccine. It was effective to improve obesity-induced dyslipidemia and fatty liver in mice, and also improved dyslipidemia and atherosclerosis in a mouse model of familial hypercholesterolemia, with no reported toxicity.<p class="abste...

In Brief: The authors use cell tracing approaches in a PRMT5flox/Δ Ctsk-Cre strain to label periosteal stem cells (PSCs) and show that PSCs are not only essential for intramembranous bone formation but also for endochondral bone formation. The study identifies the role of PSC derived indian hedgehog (Ihh) in maintaining growth plate homeostasis and postnatal skeletal growth.Commentary: The skeleton harbors stem cells in three independent ...

In Brief: The authors present ‘RETFound’, a self-supervised learning approach that has so far analysed 1.6 million retinal images to enable disease detection. RETFound shows good accuracy for diagnosis and prognosis of sight-threatening eye diseases. It also contributes to incident prediction of complex systemic disorders such as heart failure and myocardial infarction.The well-known saying ‘the eyes are the window to the soul’ means ...

J Bone Miner Res. 2021 Aug;36(8):1594-1604.Abstract: https://pubmed-ncbi-nlm-nih-gov/33900645/In Brief: Enzyme replacement therapy with human ENPP1-Fc protein in Enpp1asj/asj mice, a murine model of ENPP1 deficiency, restored circulating levels of PPi, prevented clinical manifestations and decreased mortality.Commentary: ENPP1 deficiency causes gen...

To read the full abstract: Nat Commun. 2019 Aug 16;10(1):3696. doi: 10.1038/s41467-019-11667-y. PMID: 31420539.The hypothalamic arcuate nucleus (ARC) controls crucial physiological processes, such as growth, reproduction and energy homeostasis. However, it is unknown how ARC neurons gain their unique cellular identities and what are their developmental relationships. Here, the authors i...