ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature Communications 2018;9:636We know that good nutrition early in life has profound and long-lasting effects on body weight in later life. Malnutrition during pregnancy or infant formula feeding may be stored on the offspring genome as epigenetic memory and persist into adulthood, thereby influencing the susceptibility to metabolic diseases, such as obes...

To read the full report: https://www.fda.gov/NewsEventsThe report, issued by the U.S. National Toxicological Program (NTP), presents the initial results of a multimillion dollar study conducted for more than 5 years by scientists at FDA’s National Center for Toxicological Research. It looked at the effects of different doses of BPA evaluating chronic and e...

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...

Brief summary: This retrospective case-control observational study assessed body composition of children with non-classic congenital adrenal hyperplasia (NCCAH) using bioelectrical impedance analysis (BIA). It showed that children with NCCAH have an imbalance between muscle and fat tissues compared with control subjects, which may place them at increased risk for early-onset cardiometabolic morbidity.Non-classic congenital adrenal hyperplasia (NCCAH) is ...

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...

Brief Summary: This retrospective, single-center study from Kobe Children’s Hospital, Japan, analyzed height SDS (main outcome) and risk of short stature (height <-2 SDS, secondary outcome) in 89 children with malignant diseases who underwent initial allogenic hematopoietic stem cell transplantation (HSCT) with different conditioning intensities. More intensive conditioning conferred a substantially higher risk of short stature at 3 years after HSCT.<p class="abst...

Brief Summary: This double-blind, randomized trial, showed that 2 dosing regimens of alirocumab, a human monoclonal antibody to proprotein convertase subtilisin kexin type 9 (PCSK9), reduced LDL-C in children as young as 8 years with heterozygous familial hypercholesterolemia inadequately controlled by statins. Efficacy was sustained over 2 years, and both regimens were generally well tolerated.Comment: Heterozygous familial hypercholesterolemia (HeFH) i...

To read the full abstract: Nat Comm 2019; 10(1): 1718Steroid receptor coactivator (SRC)-1 mediates nuclear hormone receptors and transcription factor-dependent transcription (1), and interacts with STAT3 (2) an important mediator of leptin-induced POMC expression and hence satiety (3). Src-1 knockout mice are obese (4), however, the underlying mechanism is unclear. In a...

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...

Brief summary: This randomized, multicenter, controlled, phase II study compared the effects of high-dose (HD) once-weekly PEGylated-recombinant human growth hormone (PEG-rhGH) to low-dose (LD) and to an untreated control group of children with idiopathic short stature (ISS) over a period of 52 weeks. PEG-rhGH was effective in increasing height gain in a dose dependent manner with both doses being well tolerated during the observation period.PEG-rhGH is ...