ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Development and Psychopathology 2017;29:1517-1538Work in rodents, already some years ago, showed that epigenetic changes can be transmitted trans generations. This study shows that in humans, the simple act of touching during infancy has lifelong consequences on gene expression through epigenetic changes that sustain for at least 4 years. Children who were distresse...

To read the full abstract: Lancet. 2019 Aug 17;394(10198):587–595. doi: 10.1016/S0140-6736(19)31255-3.These authors previously described that the measurement of copeptin, a peptide cleaved in the posterior pituitary from the protein precursor of vasopressin and stable in circulation, is an accurate tool to diagnose diabetes insipidus (DI; vasopressin insufficiency). However, the...

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...