ESPE Yearbook of Paediatric Endocrinology

This year research on pituitary and neuroendocrinology has been extremely rich with outstanding contributions to the field. The number of novel mechanisms and the identification of novel disease-causing genes have increased enormously. Our selection has not been easy, and it reflects only a portion of all the excellent new findings both in basic and translational research. Highlights of this chapter include novel mechanisms with the identification of Sema6a to control vascular permeability that fine-tunes GnRH response and the role of Kisspeptin in astrocytes to control GnRH function in the HP-gonadal axis. New treatments and hopes include a successful clinical trial using MAPK inhibitors to effectively treat papillary craniopharyngiomas and the identification of novel congenital hypopituitarism-causing genes using reverse genetics from rodents to clinically relevant cohorts. Overall, the research presented in this chapter exemplifies the fast-advancing field and extraordinary basic genetic research is providing translational outputs to the benefit of the patients.