ESPE Yearbook of Paediatric Endocrinology

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...

Brief summary: This study used high-resolution single-cell multiomics and flow cytometry on blood samples from patients with type 1 diabetes (T1D) to examine the effects of low-dose recombinant IL-2 (iLD-IL-2). Administration of iLD-IL-2 expanded thymic-derived FOXP3+HELIOS+ Tregs and CD56bright NK cells, reduced frequency of IL-21-producing CD4+T cells, and induced long-lived anti-inflammatory transcriptional changes in all T and NK...

To read the full abstract: Nat Commun. 2020;11:1343.Li et al. describe a new genetic mechanism causing Pendred syndrome and extend evidence for an oligogenic origin of congenital hypothyroidism (CH). Autosomal recessive mutations in Pendrin (PDS/SCL26A4 ) were described in 1997 to cause Pendred syndrome [1]. However, over the years patients with either only heterozygous or even no mutation in PDS/SLC26A4 have been diag...

To read the full abstract: Trends in Ecology & Evolution, 2018. 33 (8); 582–594.This opinion piece argues that Homo sapiens evolved within interlinked groups living across Africa, and not in a single region of East Africa. Millennia of separation gave rise to diversity of human forms, and a complex mix of archaic and modern features in different places and...