ESPE Yearbook of Paediatric Endocrinology

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 (...

To read the full abstract: J Endocrinol. 2020:JOE-20-0066.R2. PMID: 32380472.Human physiology and behavior are adapted to daily environmental cycles by means of endogenous circadian clocks. Biological tasks, including cell proliferation, differentiation, energy storage and immune regulation, are preferentially confined to specific periods of the 24-h cycle. This circadian rhythm derives fro...

To read the full abstract: Diabetes Care. 2019;42(9):1816–23. doi: 10.2337/dc19-0430Short summary: In this longstanding cohort study (n =1718), high intraindividual variability over time in BMI and in HDL-C during childhood, independent of their mean levels, conferred an increased risk of later-life diabetes.Comment: Intraindividual variabil...

To read the full abstract: Lancet Child Adolesc Health 2019; 3: 822–30. doi: 10.1016/S2352-4642(19)30266-4• The upper age limit of paediatric care varies markedly from country to country.• The authors surveyed 1372 paediatricians in 115 countries and found that, based on their personal experience, the upper age limit of pediatric services had increased over the last 20...

To read the full abstract: Clin Endocrinol. 2018;89:56–64.McCune Albright syndrome (MAS) is a rare disorder caused by somatic gain-of-function mutations of the GNAS gene [1]. This gene encodes the α-subunit of the Gs protein and its mutations are responsible for persistent stimulation of adenylyl cyclase and dysregulated production of cyclic AMP leading to persistent o...

J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748–3756.doi: 10.1210/jc.2018-00769. PubMed PMID: 30113650This case report describes a 16 year old girl with 46,XX karyotype, no pubertal development and streak gonads. The girl was 150 cm tall and had closed epiphyses and osteoporosis. Genetic investigation by whole exome sequencing showed a loss-of-function mutation i...