ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Neuroendocrinol. 2018; 30(7): e12589Classically, the re-awakening of the GnRH system around puberty is considered to be under the control of a variety of genes that work in coordinated networks operating in the hypothalamus1. Very recent evidence suggests that a dual mechanism of epigenetic regulation affecting the transcriptional activity of neurons involved i...

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...

Brief Summary: This translational study identifies significant shifts in bile acid composition associated with puberty in female adolescents and rats and identifies a new mechanism of GnRH secretion regulation by bile acid.Metabolic cues regulate the reactivation of the GnRH system at puberty. The last few years have identified leptin, ghrelin and essential fatty acids as permissive or inhibitory cues regulating GnRH neuron activity1-4. The ef...

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...

J Clin Invest. 2020 Aug 3;130(8):4486–4500. 10.1172/JCI136564. PMID: 32407292 https://www.jci.org/articles/view/136564In brief: This study in rats and non-human primate models investigated the mechanisms by which MKRN3 regulates pubertal onset in rats and non-human primates.Comment: Pubertal timing is in...

Elife. 2021 Sep 8;10:e69765. doi: 10.7554/eLife.69765. PMID: 34494548. https://elifesciences.org/articles/69765Brief Summary: Using a database for arcuate nucleus transcripts, this study identifies Nhlhl2 as a key regulator of the Kiss1 gene in male mice.The timing of puberty onset is i...

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...

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...