ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. Vol 104, Issue 9, September 2019, Pages 3785–3794. PMID: 31127822Maternal vitamin D status during pregnancy has been associated with markers of fetal growth and development. The circulating form of vitamin D, 25-hydroxyvitamin D [25(OH)D], crosses the placenta, and the developing fetus relies on the mother for its vitamin D s...

To read the full abstract: J Biol Chem. 2020;295:6876–6887.In this experimental study, Morishita et al. developed a CRISPR/Cas-9 mediated cell model to investigate the molecular effects of thyroglobulin (TG) accumulation in the endoplasmatic reticulum (ER) of thyrocytes, as is observed in the context of dyshormonogenic CH caused by TG gene mutations. TG accumulation in the ER is a result of TG mutations altering t...

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: 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: Psychoneuroendocrinology. 2019, Jun; 104: 228–37. doi: https://www.sciencedirect.com/science/article/pii/S0306453018312307?via%3DihubThe effect of sex hormones on long-term regulation of the hypothalamic-pituitary-adrenal (HPA) axis was studied in 25 transgender individuals (10 trans-female) at baseline and after 3 months ...

To read the full abstract: Stem Cell Res Ther. 2019 Oct 22;10(1):310. ellen.goossens@vub.beInfertility due to spermatogonial stem cell (SSC) loss is one of the major late adverse effects related to both chemotherapy and radiotherapy, and several researchers are now focusing on the development of new techniques to preserve germ cells.Semen sample storage is not feasible in prepuber...

To read the full abstract: Lancet Glob Health 2020;8: e134–42. doi: 10.1016/S2214-109X(19)30457-7• The results of 25OH Vit D determination from 129 studies including 21 474 participants in 23 African countries were analyzed.• Overall, a serum 25(OH)D concentration less than 30 nmol/L was found in 18.5% of the population and less than 75 nmol/l in 59.5% of the populatio...

To read the full abstract: The Journal of Clinical Endocrinology & Metabolism 2019;104:5073–5083.On a similar theme to paper 15.12, these authors studied women with Turner syndrome (TS; n =200), age range 16–78 years, between 1995 and 2018 with a focus on the impact of growth hormone (GH) therapy on health-related quality of life (HR-QoL). Despite a mean 5.7 cm increase in expected height, GH therapy was not associated wit...

Diabetologia 2019 Feb;62(2):249–258. doi: 10.1007/s00125-018-4758-0.This is the first population-based study to examine the relative contribution of maternal diabetes, excess birthweight and breast-feeding on the risk of being overweight and obese in childhood.Being large for gestational at birth is a potentially modifiable factor and this study highlights the...

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...