ESPE Yearbook of Paediatric Endocrinology

Introduction

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. Our selection has not been easy, and it only reflects a portion of all the excellent new findings both in basic and translational research. Highlights of this chapter include novel mechanisms that identify that pituitary gonadotrophs (LH/FSH) have dual embryonic origine with most postnatal LH and FSH arising from postnatal Sox2+ve pituitary resident stem cells rather than embryonic stem cells. Another novel mechanism identifies FGF1 expressed from corticotropes cells acting in a paracrine fashion to impact pituitary differentiation and gland architecture. Novel genes important in pituitary disease such as a gene encoding fatty acid synthase (FASN) involved in a complex multisystem disorder including hypopituitarism and hypoparathyroidism or Nxn, a redox-sensitive oxidoreductase, had previously been linked to broader developmental syndromes, such as Robinow syndrome. New treatments and hopes include a successful human study using intranasal administration of kisspeptin demonstrating that it can rapidly and effectively stimulate the release of gonadotropins (LH and FSH) in humans, providing evidence as potential therapeutic avenue that could be applied to the management of reproductive disorders. 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.