ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: PLoS Genet. 2020;16:e1008770.Præstholm et al. quantified by a genomics approach histone H3 acetylation – an epigenetic mark for DNase accessible chromatin – at thyroid hormone target gene enhancers to challenge the current model of genome binding action of T3 (type 1 action of thyroid hormone receptors (TR)) [1]. For this, they investigated genome-wide the liver of WT mice at hypothyroid and hyp...

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

To read the full abstract: J Clin Endocrinol Metab. 2020;105:e774–e7781.This prospective non-randomized clinical trial investigated the effect of two-years levothyroxine treatment in children with subclinical hypothyroidism (TSH 5.0–9.9 mU/l with normal FT4 for two years preceding the study) starting at a mean age of 9 years. Capalbo et al. observed no change in IQ scores in 20 children after two-years of levothyroxine. Furthe...

To read the full abstract: J Nutr. 2020 Jun1;150(6):1405–1412.There is increasing evidence that dairy milk positively affects linear growth, weight and body composition in children, particularly in low- and middle-income countries (1)(2). This effect of milk on growth has been proposed to be mediated by IGF-I (2), (3). The aim of this double-blinded, controlled trial was to evaluate the effect of milk supplements on circulating IGF-I and to...

To read the full abstract: J Bone Miner Res. 2020 Apr 24. doi: https://pubmed.ncbi.nlm.nih.gov/32329913/In brief: Hematopoietic stem cell transplantation remains the only curative treatment in children with severe osteopetrosis. According to this study, increased serum calcium and phosphate serve as good markers of successful engraftment, which leads to significant but incomplete n...

To read the full abstract: Stem Cells, 2020;38(6):769–781.In brief: A novel population of osteoprogenitor cells in proximity to transcortical channels is found to persist during skeletal maturation. These migrate, expand and contribute to bone formation.Commentary: Bone formation and regeneration requires multiple distinct populations of progeni...

To read the full abstract: FASEB J. 2019, Jul; 33: 8423–35. doi: https://www.ncbi.nlm.nih.gov/pubmed/30991836Retinoic acid (RA) is essential for the regulation of many developmental events including germ cell differentiation. In the developing testis, tight spatiotemporal control of RA levels is maintained by the enzyme CYP26B1, which inactivates RA. CYP26B1 expres...

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

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...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(4):1098-111. PMID: 31950148.Classical congenital adrenal hyperplasia (CAH) is characterized by impaired glucocorticoid, and often also mineralocorticoid, secretion and increased adrenal androgen production (1). Given the widespread expression of androgen and glucocorticoid receptors throughout the brain (...