ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2020; 105(9): 3103–3107.https://pubmed.ncbi.nlm.nih.gov/32629476/In this narrative review, the authors discuss the potential role of novel regenerative therapies for the treatment of adrenal insufficiency, including gene therapy and cell replacement strategies. More specifically, the authors discuss the heterogeneity in adrenal function in patients with Addison...

Elife. 2021 Jan. 10:e59142. doi: https://doi.org/10.7554/eLife.59142.Brief Summary: The authors studied genetic mice models to show that pituitary stem cells can secrete WNT ligands to their committed progeny and promote their expansion.The anterior pituitary contains a population of Sox2 expressing stem cells (Sox2+ PSCs), which self-renew and give rise to lineage...

Brief Summary: This study examined the complex process of sex determination in mice, with a specific focus on the role of WT1 isoforms, +KTS and -KTS, during gonadal development. The study provides insights into how the balance between these isoforms impacts sexual differentiation, with broader implications for understanding gonadal dysgenesis conditions, like Frasier syndrome.While the role of the SRY gene in testicular determination i...

Brief Summary:Heterozygous, de novo variants in KIF5B are identified in 4 individuals with osteogenesis imperfecta. Studies of these KIF5B variants in C. elegans and cell models reveal the disease-causing mechanism. KIF5B seems important for intracellular trafficking and mTOR signaling to maintain skeletal homeostasis.Several years after the description of the last new osteogenesis imperfecta (OI)-related gene, the authors repo...