ESPE Yearbook of Paediatric Endocrinology

Hum Mol Genet. 2020 Dec 18;29(20): 3443–3450.https://pubmed.ncbi.nlm.nih.gov/33089319/The authors performed an experimental study in Kiss1 knock-out mice, followed by an observational study of patients with adrenal tumors. The findings indicate that KISS1/KISS1R signaling may be involved in obesity, metabolic disorders and even gonadal steroid hormone perturbations.<p class="abstex...

Brief Summary: This large patient cohort of children with endogenous Cushing syndrome describes their anthropometric, clinical, and biochemical characteristics, as well as their associated complications and outcomes. The findings inform diagnosis, treatment, and management.Comment: Endogenous Cushing syndrome is rare in children and adolescents, and has variable manifestations (1-6). This prospective, multicenter cohort of 342 children and adolescents ag...

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...