ESPE Yearbook of Paediatric Endocrinology

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: 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: Journal of Clinical Endocrinology and Metabolism vol. 105,8 (2020): dgaa135. doi: https://academic.oup.com/jcem/article/105/8/dgaa135/5807960This meta-analysis of 22 studies, comprising in total 21 801 individuals, evaluates the accuracy of self-assessment of pubertal stage by the patient him/herself, given the many challenges in obtaining cl...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(12): 6148–6154. PMID: 31393570.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has an incidence of 1 in 10 000 to 20 000 in most populations. It is one of the most common monogenic autosomal recessive disorders (1). It has been suggested that the condition is common because it may confe...

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: JAMA 2019; 32:484–492Type 1 diabetes (T1DM) is clearly associated with higher risks for cardiovascular disease and late complications, such as retinopathy and nephropathy. A putative impact of T1DM on neurocognitive development is less clear. For example, it is unclear whether T1DM is associated with school performance in children.This study compared standardized reading and mathematics test...

To read the full abstract: Nature 2020; 581, 434–443The Genome Aggregation Database (gnomAD) Consortium https://gnomad.broadinstitute.org compiled data on ˜125,000 exomes and ~15,000 whole genomes from populations around the world. This is one of seven articles (also see Refs 1–6) describing their initial discoveries, showing the power of this vast dataset, and presenting a more comp...

To read the full abstract: EClinicalMedicine. 2020 Apr 30;22:100338. doi: 10.1016/j.eclinm.2020.100338.The gravitostat hypothesis was only recently proposed based on studies in rodents showing that the addition of external weights to the body limits the rate of weight gain, independent of leptin signalling. In rodents, this was achieved by inserting weighted balloons into the abdomina...

To read the full abstract: JAMA. 2019 Oct 15;322(15):1515–1517. doi: 10.1001/jama.2019.12925.The authors merged data from separate national Swedish registers for births and obesity surgery and identified 2921 women who had a Roux-en-Y gastric bypass surgery between 2007 to 2014 (‘cases’) and subsequent pregnancies. Controls were identified as women without bariatric surgery ...

To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...