ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study describes how the primary cilia of hypothalamic neurons bearing melanocortin-4 receptors (MC4R) progressively shorten with age, leading to reduced sensitivity to satiety signals, increased appetite, and obesity. This age-related ciliary shortening is exacerbated by chronic leptin-melanocortin signalling, but can be mitigated by dietary restriction or knockdown of ciliogenesis-associated kinase 1 (CILK1). These findings suggest potential therapeutic ap...

To read the full abstract: Development 2017; 144:3533-3546Endochondral ossification is the process by which the embryonic cartilaginous scaffold of most bones is gradually replaced by bone. During this process chondrocytes proliferate, undergo hypertrophy and maturation and form the growth plate, essential for bone growth. Postnatal bone growth is tightly regulated by both systemic and lo...

Sci Rep. 2020 Dec 1;10(1):20915 Abstract: https://pubmed.ncbi.nlm.nih.gov/33262386/In brief: Inhibition of excessive FGFR3 signalling constitutes the key mechanism of pharmacological treatments in achondroplasia. In this pharmacokinetic and pharmacodynamic animal study, the FGFR inhibitor ASP5878 with potential oral application mode revealed beneficial effects on skeletal growth in...

Brief Summary: This retrospective, single-center study from Kobe Children’s Hospital, Japan, analyzed height SDS (main outcome) and risk of short stature (height <-2 SDS, secondary outcome) in 89 children with malignant diseases who underwent initial allogenic hematopoietic stem cell transplantation (HSCT) with different conditioning intensities. More intensive conditioning conferred a substantially higher risk of short stature at 3 years after HSCT.<p class="abst...

Brief summary: This observational study aimed at clarifying the contribution of pathogenic copy number variants (PCNVs) and candidate pathogenic variants in 86 children born small-for-gestational-age with short stature (SGA-SS).Approximately 10% of children born SGA do not show catch-up and remain permanently short (SGA-SS) (1,2). There is increasing evidence suggesting that genetic abnormalities underlie a high proportion of SGA-SS children. In this stu...

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 ...