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: This longitudinal study explored the impact of metabolic surgery on the growth hormone (GH)/IGF-1 axis and its subsequent effects on adipose tissue function. The results suggest that bariatric surgery enhances GH-IGF-1 levels, which are linked to improved adipose tissue function and a reduction in inflammation markers.This study explored how metabolic surgery influences the GH system, and how these changes are related to improvements in ad...

Brief Summary: This molecular study explored the role of microRNAs (miRNAs) in mammalian sex determination. It used bulk and single-cell RNA-seq (scRNA-seq) alongside time-course expression analyses in a knockout mouse model to assess the role of the miR-17~92 cluster in this process.miRNAs are small, single-stranded, non-coding RNA molecules, 21 to 23 nucleotides in length, that mediate post-transcriptional gene regulation. Hurtado A et al. d...

Brief Summary: This study investigated daily glucose patterns in young children with classic congenital adrenal hyperplasia (CAH) and their relation with hormonal circadian rhythm.Comment: The aim of treatment in classical CAH is to provide adequate glucocorticoid and – when necessary – mineralocorticoid replacement to prevent adrenal crises and suppress excess adrenal androgen production. Glucocorticoids regulate glucose homeostasis, and patie...

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...

Brief Summary: This study explored the combined effect of genetic predisposition and radiation exposure on the risk of developing subsequent cancers in survivors of childhood cancer. It included genotype data from 11,220 5-year survivors and focused on six subsequent cancer types: basal cell carcinoma (BCC), breast cancer, thyroid cancer, squamous cell carcinoma (SCC), melanoma, and colorectal cancer. Polygenic risk scores (PRS) were derived from genome-wide association studie...

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...

Brief Summary:This study in mice and humans shows how paternal overweight at conception affects the metabolism of their offspring. Sperm-borne mt-sncRNAs (mitochondrial encoded or derived small non-coding RNAs) are altered by a 2-week high fat diet (HFD) challenge in mice, likely through specific upregulation of mt-tsRNAs (mitochondrial transfer RNAs) caused by mitochondrial dysfunction. In humans, mt-tsRNAs in spermatozoa correlate with body mass index. Genetically engineered...

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...