ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Commun. 2018 Jan 4;9(1):57The hypothalamic-pituitary-gonadal axis controls the onset of puberty and the acquisition of the reproductive function. A subset of neurons in the anterior hypothalamus secretes gonadotropin-releasing hormone (GnRH) which, through its pattern of release controls all aspects of reproduction throughout life. The secretory activity of GnR...

To read the full abstract: Hum Mol Genet. 2019 Apr 15;28(8):1357–1368.This whole-exome study from a large cohort of familial self-limited delayed puberty identifies the first EAP1 mutations leading to reduced GnRH transcriptional activity and resulting in a phenotype of self-limited delayed-puberty.Enhanced at puberty 1 (EAP1) is a nuclear trans...

To read the full abstract: Nat Commun. 2018 Oct 10;9(1):4194.This study identifies Sirtuin 1 (SIRT1), a fuel-sensing deacetylase, as a molecule that restrains female puberty via epigenetic repression of the puberty-activating gene, Kiss1 in rats.The last few years have brought evidence regarding the epigenetic control of the onset of puberty. It is now cle...

To read the full abstract: Nat Commun. 2018 May. 17;9(1):1977.This population study reports 26 loci for ages at menarche and menopause in a Japanese population and demonstrates widespread differences in allele frequencies and effect estimates between Japanese and European variants.Over the past decade, genome-wide association study (GWAS) meta-analys...

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...