ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2018 Sep 1;103(9):3420–3429.This whole-exome study in 67 probands and 93 relatives from a large cohort of familial delayed puberty identifies a new heterozygous HS6ST1 mutation as a novel cause of delayed puberty.The underlying pathophysiology of early and delayed puberty remains unexplained in most ...

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 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...