ESPE Yearbook of Paediatric Endocrinology

Nature. 2021;600(7890):720-6. doi: 10.1038/s41586-021-04137-3.PubMed ID: 34880500Brief summary: This mouse study identifies FABP4 (‘Fabkin’) as a new fat-derived hormone that regulates insulin-producing beta cells in the pancreas.We have learnt over the recent years that body fat is not simply a passive energy storage tissue, but instead secretes a number o...

To read the full abstract: Science 2019;365:eaat9351.As in humans, weight gain in mice leads to fatty liver disease, inflammatory adipose tissue, and insulin resistance. The depletion of the microbiota through antibiotic treatment rescued this weight gain. The cohousing of T-Myd88–/– mice transferred the weight gain to wild-type mice. The major feature of the microbiota formed within T-Myd88–/– mice was a reduction in Clostri...

Abstract: Mol. Ther. 2019;27:673–680.In brief: The authors developed a fusion protein containing a cartilage-targeting antibody fragment and Insulin-like growth factor 1 (Igf1) and demonstrate that it can stimulate growth plate cartilage at lower and less frequent doses than Igf1. This is a novel approach that paves the way for the development of tissue-specific target...

Arch Sex Behav. 2021 Apr;50(3):913–923. doi: 10.1007/s10508-021-01953-6. PMID: 33712989This paper describes a patient cohort study of 459 individuals with various DSD diagnoses, as part of the dsd-LIFE study. Patients were included at 14 different sites in 6 European countries.Genital surgery has been increasingly questioned in the past decade. Both the timin...

Transl Psychiatry. 2022; 12(1): 109. PMID: 35296634 https://pubmed.ncbi.nlm.nih.gov/35296634/Brief Summary: This mouse study identified sex and genotype-dependent effects of oral corticosterone on behavioral and physiological outcomes as well as on gene expression and epigenetics in hippocampal subregions.Glucocorticoids exert their effects by binding to glucocorticoid...

Nature. 2022;602(7895):162-8. doi: 10.1038/s41586-021-04312-6.PubMed ID: 35058638Brief summary: This study performed whole-genome sequencing (WGS) of 1013 clonal haematopoietic cell colonies from 12 adult patients aged 20–81 years with myeloproliferative neoplasms, a form of blood cancer. They identified 580 133 somatic mutations and used these to reconstruct haematopoietic clonal his...

Brief summary: This pooled study, including five cross-sectional or intervention studies (n=24–823) and using publicly available data from genome-wide association studies (GWAS) to perform Mendelian randomization, investigated the influence of glucose, insulin, body fat, body mass index (BMI), food intake, and physical activity on serum soluble leptin receptor (sOb-R) levels. The authors showed that insulin and BMI were associated with decreased serum sOb-R level...

J Clin Invest. 2021 Sep 15;131(18):e144847. doi: 10.1172/JCI144847. PMID: 34237031Brief Summary: This retrospective analysis of clinical, pathologic, and genetic characteristics of n=106 children with differentiated thyroid carcinoma (DCT) showed that fusion oncogene associated papillary thyroid carcinoma (PTC) is more frequent in young children and is associated with larger tumors, extrathyroidal ...

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...

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...