ESPE Yearbook of Paediatric Endocrinology

Endocr Rev. 2020;41:873–84. doi: 10.1210/endrev/bnaa022.Over the last decades, the treatment of Graves’ disease has been limited to antithyroid drugs, radioactive iodine ablation or surgery. Especially in the paediatric age group, all three therapeutic options have their advantages and side effects.New therapeutic options focus on the immune-pathophysiology ...

Brief Summary: This article provides an in-depth review of the genetic factors contributing to Graves’ disease (GD), the most common cause of hyperthyroidism. The authors explain that GD has a strong genetic component, with genetic factors accounting for 60-80% of the risk of developing this disease. The review traces the progress of genetic studies from initial candidate gene studies to genome-wide association studies that have identified over 80 susceptibility loci. Key...

Pediatrics. 2021 Mar 22:e2020023549. doi: 10.1542/peds.2020-023549. PMID: 33753543.This retrospective, single center chart review study assessed the incidence of arterial or venous thrombosis during gender affirming hormone therapy (GAHT) in 611 transgender adolescents. The prevalence of thrombosis risk factors was also investigated. No increased risk of thrombosis was found over a short ...

To read the full abstract: Clin Endocrinol (Oxf). 2019, Aug; 91: 237–44. doi: https://www.ncbi.nlm.nih.gov/pubmed/31004515Fertility issues in individuals with a DSD has attracted increasing attention over the past decade and are summarized in this and other reviews. The various genetic defects that cause DSD and their underlying mechanism may impair fertility in a variety of ways. I...

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 ...

To read the full abstract: Nat Commun 2019;10:343This paper reports many loci associated with chronotype (i.e. being a ‘morning person’ or ‘evening person’) in a genome-wide association study (GWAS) of 697, 828 participants from the UK Biobank and 23andMe cohorts. The link between chronotype and sleep timing and quality is well known. It was therefore interestin...

Brief Summary:This study shows that brain-derived cellular communication network factor 3 (CCN3) is a potent osteoanabolic hormone to enhance bone formation in lactating female mice. CCN3 is produced by KISS1 neurons in the brain, and operates through a unique signaling pathway that interacts with bone-forming osteoblasts leading to increased bone formation.During lactation, the increased calcium demand for milk production leads to considerable bone loss...