ESPE Yearbook of Paediatric Endocrinology

Science 04 Dec 2020: 370(6521): eaaz6827 https://bit.ly/3q47CTGThese authors review the human traits and genes that microbiota may have contributed or altered in response to changes in host diet, climate, or pathogen exposure.It is now widely recognized that the microbiota of mammals is a product of coevolution. Nevertheless, humans are different in having a geographically specific micr...

To read the full abstract: Nature 2017;547:419Since the identification of DNA methylation as a master regulator of genomic imprinting more than 20 years ago, it has been the only known mammalian germline imprinting mark. However, recent studies have identified several imprinted genes capable of maintaining paternal allele-specific expression in the absence of oocyte DNA methylation. Here, t...

In Brief The authors report a genome-wide association study (GWAS) on Type 2 diabetes (T2D), including data from 2 535 601 individuals (39.7% non-European ancestry), including 428 452 with T2D. They identify 1,289 independent GWAS signals (at P < 5×10−8), of which 145 loci are novel. These genetic signals cluster into 8 groups, with differing cardiometabolic trait associations and differing cell-specific profiles of gene activation (open chro...

Brief summary: Neonates of mothers suffering from Graves’ Disease during pregnancy are at risk for hyper- or hypothyroidism postnatally. The risk for hypothyroidism of neonates exposed to maternal anti-thyroid drugs until birth is unknown. This large retrospective study aimed at investigating 1) the incidence of hypothyroid neonates in a large cohort of mothers treated with anti-thyroid drugs until birth, and 2) identify a cutoff for maternal anti-thyroid drug doses assoc...

In Brief: The authors report the largest genetic study to date of Type 2 diabetes (T2D), pooling genome-wide association study (GWAS) data from 2 535 601 individuals (39.7% non-European ancestry), including 428 452 T2D cases. They identified 1289 independent association signals at genome-wide significance (P<5×10−8). These T2D GWAS signals could be separated into eight nonoverlapping clusters, characterised by distinct cardiometabolic disease...

Abstract: Nature. 2018 Sep;561(7722):195–200.In brief: This study used various cell-based methods and animal models to investigate the RANK-RANKL signaling pathway in bone homeostasis. The authors show for the first time, that reverse signaling exists from osteoclast to osteoblast and that vesicular RANK, secreted by the osteoclast, relays information to the osteoblast...

Abstract: Nat Med. 2019 Apr;25(4):583–590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (20–24 nucleotides) noncoding RNA molecules that post-transcriptio...

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...

Brief Summary: This study examined the incidence and risk factors for adrenal crisis (AC) in patients with pediatric-onset adrenal insufficiency (AI). AC occurs in a substantial number of children with AI, particularly in younger children due to their high number of infections.Comment: Adrenal crisis (AC) is a life-threatening complication in patients with adrenal insufficiency (AI) (1-4). The clinical features of AC are often nonspecific, and it may be ...

J Clin Invest. 2020 Dec 1;130(12):6338–6353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...