ESPE Yearbook of Paediatric Endocrinology

In the puberty field, this year brought new evidence regarding the epigenetic control of puberty. Recent studies confirm that the epigenetic switch from transcriptional repression to activation plays a crucial role in the hypothalamic mechanism controlling the timing of mammalian puberty.

We can also see that, although sometime difficult to differentiate in term of clinical presentation, constitutional delay of growth and puberty and hypogonadotropic hypogonadism have a different genetic architecture. Along this line, this chapter summarizes the discovery of new genes involved in hypogonadotropic hypogonadism. My aim was to present a mix of experimental and clinical studies. This summary also presents new understanding of the role of kisspeptin in puberty, the incidence of long term psychopathology in patients with early onset of puberty and the secular trends in growth and puberty in Turner patients.