ESPE Yearbook of Paediatric Endocrinology

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...

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...

Mol Genet Genomic Med. 2018 Sep;6(5):785–795.doi: 10.1002/mgg3.445. PubMed PMID: 29998616Chromobox protein homolog 2 (CBX2) has two isoforms, CBX2.1 and the shorter CBX2.2. CBX2.1 was previously shown to be essential for male gonadal development, when a mutation was identified in a girl with 46,XY DSD. CBX2.1 stimulates male-specific...

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...

To read the full abstract: Stem Cell Res Ther. 2018 Nov 21; 9 (1):317Spermatogonial stem cell transplantation (SSCT) could become a fertility restoration tool for childhood cancer survivors. However, the colonization efficiency of transplanted spermatogonial stem cells (SSCs) in animal models is about 12%, and the effectiveness of this procedure needs to be improved before clinical imple...

To read the full abstract: JAMA Pediatr. 2019;173(3):280–282.For many years, it has been put forward that enterovirus infections might precede type 1 diabetes onset and that there might be a link between the two diseases. This study simply shows that it is still not the time to draw firm and clear conclusions as to whether or not enteroviruses do play a role in the pathogenesis of a...