ESPE Yearbook of Paediatric Endocrinology

In brief: This 1-year, open-label, randomised controlled trial examined the effects and tolerability of denosumab, compared with zoledronic acid, on bone mineral density (BMD), spinal morphometry, and safety in a large cohort of children (n=84) with osteogenesis imperfecta. Treatment with denosumab increased BMD and improved spinal morphometry in children with OI, but was frequently associated with rebound hypercalcaemia (in 31%). This rebound hypercalcaemia could be alleviate...

Brief Summary: This single-center, retrospective cohort study compared the final adult height (FAH) of 92 male childhood cancer survivors (CCS) with growth hormone deficiency GHD) treated with growth hormone alone (monotherapy) or in combination with an aromatase inhibitor. The addition of AI to GH therapy did not improve FAH.This study from the Children’s Hospital of Philadelphia is the most extensive study on the role of AI associated with GH in i...

Short summary: This study describes sex differences in fetal liver-specific androgen signalling that are altered in response to maternal obesity in baboons. It reveals that livers of male fetuses favour a pro-androgenic environment in response to maternal obesity by suppressing the activity of testosterone-metabolising CYP enzymes (CYP2B6 and CYP3A) and by reducing cytoplasmic and nuclear androgen receptor (AR-45) expression. By comparison and most interestingly, there were mi...

Nat Commun. 2020;11:4807. doi: 10.1038/s41467-020-18497-3.This interesting paper illustrates the potential of machine learning to improve the sensitivity and specificity of routine techniques in clinical practice if large cohorts for training and validation of models are used. Yu et al. present a transfer learning model (machine learning approach to solve research problems by r...

Epigenomics. 2021 Aug;13(15):1221-1230. doi: 10.2217/epi-2021-0096. PMID: 34337972.Brief Summary: This case cohort study assessed whether epigenetic factors explain the link between gestational diabetes mellitus (GDM) and macrosomia. Epigenetic changes in the MEST gene were associated with both GDM and macrosomia.GDM leads to neonatal macrosomia and in the long-t...

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...

To read the full abstract: Nat Commun 2019;10:163.Central estrogen signaling via estrogen receptor alpha (ERα) coordinates energy expenditure, reproduction and, in concert with peripheral estrogen, impacts skeletal homeostasis. Here, the authors showed that eliminating ERα in kisspeptin arcuate nucleus neurons resulted in high bone mass phenotype in female mice only.<p clas...

To read the full abstract: Horm Res Paediatr: 2018;89(6):413–422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

J Clin Psychiatry 2018;79.DOI: 10.4088/JCP.17m11607Summary: In a population-based prospective cohort study, based on the Taiwan National Health Insurance Research Database, 35,949 adolescents and young adults with attention-deficit/hyperactivity disorder (ADHD) had a higher risk of developing T2DM and had a shorter duration between enrollment and onset of T2DM ...

To read the full abstract: J Clin Invest 2018;128:1913-1918Two rare genetic forms of vitamin D–dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vitamin D receptor signalling due to mutations in the gene encoding the ...