ESPE Yearbook of Paediatric Endocrinology

PrefaceSome of this year’s studies help us further understand the role of MKRN3 in puberty and better define the phenotype associated with MKRN3 mutations. Large cohort studies bring more information regarding secular trends in central precocious puberty, premature thelarche and adrenarche, but also gynecomastia. This chapter also highlights new discoveries regarding the effect of prenatal stress on pubertal timing and the results of the first phase...

Introduction: This year brought us some fascinating data regarding extra-hypothalamic GnRH neurons as well as a new player in puberty and growth regulation, MC3R. It also highlighted the crucial role of glial cells and tanycytes in the developmental processes leading to puberty. From a clinical point of view, this year’s studies opened new avenues for better discriminating between self-limiting delayed puberty and isolated hypogonadotropic hypogonadism....

Preface: In the puberty field this year, several high impact basic studies highlighted the role of neurotrophic factors and microRNA in GnRH neuron migration and activation around puberty. Fascinating discoveries were made regarding the transcriptome of developing GnRH neurons and testicular cells.This chapter also summarizes new data regarding the genetic architecture of the control of puberty using GWAS studies in boys as well as much awaited data rega...