ESPE Yearbook of Paediatric Endocrinology

Hum Mol Genet. 2020 Dec 18;29(20): 3443–3450.https://pubmed.ncbi.nlm.nih.gov/33089319/The authors performed an experimental study in Kiss1 knock-out mice, followed by an observational study of patients with adrenal tumors. The findings indicate that KISS1/KISS1R signaling may be involved in obesity, metabolic disorders and even gonadal steroid hormone perturbations.<p class="abstex...

To read the full abstract: Nat Genet. 2017 Jun;49(6):834-841See comment on 7.6...

Nature. 2021;596(7872):393-7. doi: 10.1038/s41586-021-03779-7.PubMed ID: 34349265Brief summary: This study analysed genome-wide association array (GWAS) data on ~200 000 women of European ancestry to identify 290 separate genetic signals associated with normal variation in age at natural menopause (ANM). Experimental alterations of key identified genes in mouse models confirmed their impac...

To read the full abstract: Nature communications vol. 11,1 1536. 24 Mar. 2020. doi: https://www.nature.com/articles/s41467-020-14451-5This multi-trait genome-wide association study (GWAS) for male puberty timing identifies 76 independent signals for puberty timing and highlights relationships with natural hair colour and lifespan. The timing of puber...

To read the full abstract: Inflamm Bowel Dis. 2017;23:1410-1417This cross-sectional study analyzed bone health status by high-resolution peripheral quantitative computed tomography (HRpQTC) of a Swiss Cohort of young patients with inflammatory bowel disease (IBD) in comparison to healthy controls, matched for sex, age, height and fracture history. The results showed subtle abnormalities in...

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...

To read the full abstract: Cell 2019;177 (3):59–-607.e9. PMID 31002796.A recent GWAS showed that the heritability of thinness was comparable to that of obesity (1). Some loci showed effects across the entire BMI distribution. This is also true for variants in MC4R. The present study analyzed data on ˜0.5 million people from UK Biobank, with a focus on 61 nonsynonymous var...

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...

To read the full abstract: Diabetes Care. 2017;40:1034-1040Researchers from The Children’s Hospital at Westmead, Sydney, Australia as well as scientists from institutions from three different continents, America, Europe and Australia have combined their data from large diabetes registries in order to: examine the prevalence of celiac disease (CD) in populations of patients with T1DM; investigat...