ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Proc Natl Acad Sci U S A. 2017; 114(31): E6466-E6474Cortisol production is tightly regulated in a dynamic way within the hypothalamic-pituitary adrenal system, which seems further embedded in a wider steroidogenic regulatory network (SRN). Normally, the connection from ACTH to cortisol production is in line with the HPA axis, but there are stressful events, in which t...

Hum Mol Genet. 2020 Aug 3;29(13):2148–2161. doi: doi:10.1093/hmg/ddaa100. https://www.ncbi.nlm.nih.gov/pubmed/32452519This study explores the hitherto unknown role of FGF9 in human testis development. The authors use two mouse models that phenocopy the skeletal defects of dominant FGF9 mutations that cause skelet...

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...

Brief summary: This study investigates the effect of long-acting synthetic glucocorticoids on circadian rhythmicity and hippocampal functionGlucocorticoids exert their effects by binding to glucocorticoid receptors (GRs), which regulate up to ~20% of the genome via both direct (by binding to glucocorticoid responsive elements in promoter regions) and indirect mechanisms (by interacting with bound transcription factors and epigenetic modifiers) (1...

To read the full abstract: Nat Med. 2017 Dec; 23(12): 1444–1453This study highlights the importance of asprosin in the regulation of appetite. This peptide hormone was first described by Romere et al. in 2016 (1), who reported 2 patients with neonatal progeroid syndrome (NPS) due to truncating heterozygous mutations in the fibrillin-gene (FBN1). The FBN1 gene encodes profibrillin wh...