ESPE Yearbook of Paediatric Endocrinology

Brief summary: This study evaluated the ability of genetic risk scores to predict severe obesity in adult survivors of childhood cancer. Data from 2548 survivors of European ancestry from the St. Jude Lifetime Cohort Study was analyzed and findings were validated in 6064 survivors from the Childhood Cancer Survivor Study. Survivors with higher genetic risk scores had significantly higher odds of severe obesity. Adding genetic risk scores to prediction models that included canc...

Brief summary: Two unrelated patients with a disorder of sex development (DSD) phenotype of partial androgen insensitivity (PAIS) showed heterozygous variants in the DAAM2 gene. Their genital skin fibroblasts showed reduced dihydrotestosterone-stimulated androgen receptor (AR) activity. Extensive basic studies revealed the underlying mechanism of the DSD in which DAAM2-regulated actin polymerization at the ligand-inducible androgen receptor is required for androgen-st...

Nat Metab. 2022 Feb;4(2):284-299. https://pubmed.ncbi.nlm.nih.gov/35228745/Brief Summary: This study used three high-throughput single-cell technologies to generate a pancreatic islet cell atlas from 24 organ donors with type 1 diabetes (T1D), autoantibody positive and healthy donors. The most remarkable finding was that a subset of exocrine ductal cells appears to acquire a signature of to...

To read the full abstract: Nature. 2019 May;569(7756):409–412.A Denisovan mandible, identified by ancient protein analysis, was found on the Tibetan Plateau. It is at least 160,000 years old and provides direct evidence of the Denisovans outside Siberia.The enigma of the archaic Denisovan started in 2010 when a fraction of a finger was discovered in the D...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...

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...

Nat Metab. 2021 Feb;3(2):228–243. doi: 10.1038/s42255-021-00346-2. PMID: 33619380.In brief: In this genome-wide association study, the authors were able to disentangle the mechanism that uncouples adiposity from its known cardiometabolic complications. They identified 62 genomic loci, at which the same allele is associated with both higher adiposity and lower cardiometabol...

Elife. 2021 Jan. 10:e59142. doi: https://doi.org/10.7554/eLife.59142.Brief Summary: The authors studied genetic mice models to show that pituitary stem cells can secrete WNT ligands to their committed progeny and promote their expansion.The anterior pituitary contains a population of Sox2 expressing stem cells (Sox2+ PSCs), which self-renew and give rise to lineage...

Nat Commun. 2022 Feb 9;13(1):775. doi: 10.1038/s41467-022-28120-2. PMID: 35140214Brief Summary: This in vitro study identified interactions between distinct cell populations of the thyroid gland and immune cells in the context of Hashimoto thyroiditis. The authors provide important new insights into the pathological mechanism of Hashimoto thyroiditis by characterizing the stromal ...