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 hypo...

Preface: In the puberty field, this year brought new evidence regarding the link between obesity and the onset of puberty. Several high impact basic studies identified new factors involved in the hypothalamic crosstalk between the control of puberty and energy balance.This chapter also summarizes the discoveries regarding the genetic architecture of hypogonadotropic hypogonadism and central precocious puberty and presents some studies looking at the effe...

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...

IntroductionThis year clinical studies explored further some persistent questions regarding the challenges of diagnosing precocious or delayed puberty. Studies also explored further the genetic architecture of pathological puberty and identified rare new variants explaining central precocious puberty as well as common variants participating to constitutional delay of growth and puberty. The studies summarized in this chapter underline the future importan...

Introduction: This year, cohort studies have brought new insights regarding prepubertal and pubertal markers of future gonadal function and illustrated further the influence of physical activity on puberty timing. Basic studies have identified new candidate genes for congenital hypogonadotropic hypogonadism such as jagged-1 and NOS1. They also exposed new data illustrating the role of MKRN3 as a factor involved in progressive plastic changes rather than a sudden switch of pube...

Environ Health Perspect.2021 Aug;129(8):87003. doi: 10.1289/EHP8795. Epub 2021 Aug 12. PMID: 34383603. https://ehp.niehs.nih.gov/doi/10.1289/EHP8795?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedBrief Summary: Using a rode...

Nat Neurosci. 2021 Dec;24(12):1660-1672. doi: 10.1038/s41593-021-00960-z. Epub 2021 Nov 18. PMID: 34795451. https://www.nature.com/articles/s41593-021-00960-zBrief Summary: This neuroanatomical and physiological study in mice demonstrates that GnRH neurons attract glial cells in their vicinity via cell–cell communication...