ESPE Yearbook of Paediatric Endocrinology

Nat Med. 2020 Sep;26(9):1375–1379. doi: 10.1038/s41591-020-1007-0. PMID: 32778826.In brief: A subtype of autism arising from a cluster of genes that regulate both cholesterol metabolism and brain development was identified by integrating multiple data modalities.Comment: Autism spectrum disorder (ASD) is now estimated to affect 1:54 children ...

Front Endocrinol 2021; 12:624507. doi: 10.3389/fendo.2021.624507– This systematic review identified 41 Chinese studies totalling 7,853,756 newborns who underwent neonatal CAH screening– The overall incidence of CAH in China was 1/23,024 (95% CI, 1/25,757 to 1/20,815)– Among the CAH patients, the Male:Female ratio was 1.92:1, and 76% presented with salt wasting<p class=...

Eur J Endocrinol. 2021 May 24;185(1):77-85. doi: 10.1530/EJE-20-1332. PMID: 33914700.Brief Summary: This case control study assessed beta-cell function and glucose metabolism in large for gestational age (LGA) infants in relation to their weight and growth parameters at 2 years of age. In LGA infants, changes in growth parameters were associated with changes in insulin resistance and beta-cell dy...

julia.vonoettingen@mcgill.ca Can J Diabetes 2022: 46; 32e39. doi: 10.1016/j.jcjd.2021.04.010Brief Summary: This validation study and survey showed that the Diabetes Quality of Life for Youth (DQOLY) questionnaire and the EuroQol Visual Analogue Scale (EQ-VAS) are valid measures of Health-Related Quality of Life in Haitian youth with type 1 ...

Eur J Endocrinol 2021;185:K7–K11 doi: 10.1530/EJE-21-0312Brief Summary: Steroid profiling of 10 placentas of healthy full-term neonates (five male and five female) using liquid chromatography-tandem mass spectrometry revealed the presence of C11-oxy C19 steroids (androgens) in the fetal-placental unit at term – pointing to alternative androgen pathways in this unit.<p cla...

Nature. 2022;602(7898):632-8. doi: 10.1038/s41586-022-04408-7.PubMed ID: 35140404Brief summary: This study in the fruit-fly, Drosophila melanogaster, identified a novel gut-derived, nutrient-specific neuropeptide hormone, ‘Diuretic hormone 31’ (Dh31), which triggers the insects to switch their behaviour from feeding to courtship and reproduction.Romantic di...

To read the full abstract: J Biol Chem. 2020;295:6876–6887.In this experimental study, Morishita et al. developed a CRISPR/Cas-9 mediated cell model to investigate the molecular effects of thyroglobulin (TG) accumulation in the endoplasmatic reticulum (ER) of thyrocytes, as is observed in the context of dyshormonogenic CH caused by TG gene mutations. TG accumulation in the ER is a result of TG mutations altering t...

To read the full abstract: Endocrinology vol. 161,2 (2020): bqz041. doi: https://academic.oup.com/endo/article/161/2/bqz041/5698115This mouse study demonstrates the influence of maternal nutrition during lactation on offspring gut microbiota and its consequences on metabolism and puberty timing. Childhood obesity is a risk factor for the deve...

To read the full abstract: Psychoneuroendocrinology. 2018 Dec 6;102:128–138.This study investigated whether maternal high fat diet (HFD) exposure during rat pregnancy and lactation can alter the hypothalamic-pituitary-adrenal (HPA) in adult male offspring.Maternal diet and metabolic status are important factors which influence the intrauterine and early postna...

To read the full abstract: Nat Commun. 2018;9:4455.Here, the largest genome-wide association study (GWAS) to date on thyroid function and dysfunction, in 72,167 individuals testing 8 million genetic variants, substantially increased the number of loci that are involved in the regulation of thyroid function. It provides functional evidence that two newly identified genes are involved in t...