ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Stem Cell Res Ther. 2018 Nov 21; 9 (1):317Spermatogonial stem cell transplantation (SSCT) could become a fertility restoration tool for childhood cancer survivors. However, the colonization efficiency of transplanted spermatogonial stem cells (SSCs) in animal models is about 12%, and the effectiveness of this procedure needs to be improved before clinical imple...

J Pediatr Endocrinol Metab 2019; 32(3): 253–258. DOI: 10.1515/jpem-2018-0342• 44,360 neonates were screened for CAH as part of a pilot screening programme in Beijing.• In this prospective study, a CAH incidence of 1:7393 was found, and the most common 21 OHase mutation was c.293-13C/A>G.The authors describe the results of a ...

To read the full abstract: Nat Med. 2019 Mar;25(3):439–447.Prenatal screening for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. This article describes a new non-invasive prenatal screening (NIPS) approach for the detection of de novo or paternally inheri...

To read the full abstract: Nature 2017;548:52-57The central nervous system contributes to ageing. The hypothalamus seems to be particularly important in this process. Recent studies have demonstrated a link between ageing and a decrease of neurogenesis in the hippocampus and the subventricular zone of the lateral ventricle in the brain. Neural stem/progenitor cells (NSC) reside in those regions in ...

To read the full abstract: Cancer. 2018;124:2220-2227The Brief Coping Orientation to Problem Experience (brief COPE) questionnaire was designed to explore the coping strategies used by individuals in response to stress. It has been used to research various populations with chronic health conditions (1). ‘Betweenness centrality’ is a measure of centrality in a graph based on shortest path...

To read the full abstract: NeuroImage 2017; 159: 236-247The results of this study suggest that, compared to adolescents with a low risk, lean adolescents with a high familial obesity risk show a weaker activation of neural systems subserving attentional self-regulation in response to food-denoting words. These same changes were found in overweight or obese adolescents. It is interestin...

In Brief: This phase 1 study in healthy adults assessed the safety and feasibility of transcon-CNP, a novel prodrug that releases native C-type natriuretic peptide (CNP). The novel drug was well tolerated and CNP remained in systemic circulation for >7 days following a single dose.Commentary: Achondroplasia is caused by autosomal activating mutation in the fibroblast growth factor receptor 3 gene (FGFR3) resulting in constitutive receptor ac...

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

Clin Genet. 2020 Oct;98(4):402–407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...

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...