ESPE Yearbook of Paediatric Endocrinology

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...

Brief summary: Using human induced pluripotent stem cells as well as transgenic mouse models, this paper shows that MKRN3 could initiate pubertal onset by regulating hypothalamic development and plasticity.The reactivation of GnRH secretion at puberty is thought to result from a loss in inhibitory input together with an increase in transactivation onto GnRH neurons. The main component of this inhibitory tone was incompletely understood until the discover...

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1041–1050. 10.1210/clinem/dgaa955. PMID: 33383582. https://academic.oup.com/jcem/article-abstract/106/4/1041/6056669?redirectedFrom=fulltextIn brief: This paper describes the clinical and hormonal features of a large cohort of patients wit...

To read the full abstract: PLoS biology vol. 17,11 e3000532. 7 Nov. 2019. doi: https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.3000532This study unravels the role of the miR-30/Mkrn3 pathway in the hypothalamic regulation of puberty Puberty onset is triggered by a hypothalamic network of interconnected...

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...