ESPE Yearbook of Paediatric Endocrinology

In Brief: Hypophosphatasia is a clinically heterogenous disorder. By analysing observational data on 215 children (54.4% girls) with hypophosphatasia from the Global Hypophosphatasia Registry, the authors found growth impairment in patients aged <2 years. However, short stature was not a characteristic feature of children with hypophosphatasia, and height was not correlated with disease severity.Commentary: Hypophosphatasia is an inborn error of meta...

Brief summary: This prospective observational cohort study determined leukocyte telomere length (LTL) in 76 patients with genetically confirmed CAH (83% classic CAH). LTL was shorter in patients with classic vs nonclassic CAH, in overtreated than in optimally treated patients, and patients receiving prednisolone compared with hydrocortisone.Telomeres are tandem repeats of a noncoding hexameric nucleotide sequence (5′-TTAGGG-3′) located at the...

Brief summary: Grzelka et al. identified a hypothalamic circuit that regulates regain of body weight after weight loss.Body weight is one of the most regulated variables of our body, which is most likely due to the evolutionary history of times when access to food was scarce and volatile. Weight loss triggers a strong counterregulatory response. It increases the hunger drive and greatly increases the reward value of food, making it more difficul...

Brief summary: This meta-analysis examined the association of autism spectrum disorders (ASD) with cardiometabolic diseases. The study included 276 173 individuals with autism and found a 69.4% higher relative risk of dyslipidemia, indicating higher risks of heart disease and stroke. The risk of type 2 diabetes mellitus (T2D) was 247% higher in individuals with autism, and the risk of type 1 diabetes mellitus (T1D) was 64% higher. Genetic factors, obesity, and autoimmune disea...

Brief summary: The authors describe the various applications of the content of ESPE’s e-learning website that has been expanding greatly over the last 10 years. The program includes a Limited Resource Setting module that was developed in 2017 and has been translated into French, Spanish, Swahili, and Chinese.This interesting article retraces the successful development of ESPE’s e-learning program since 2012. Thanks to the tenacity and involveme...

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1111–1128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...

Pediatr Blood Cancer. 2021; 68: e28894. https://pubmed.ncbi.nlm.nih.gov/33459500/This cross-sectional observational study examined reproductive function in a nationwide cohort of female childhood acute lymphoblastic leukemia (ALL) survivors.Self-reported reproductive characteristics (age at menarche, virginity status, desire for children, pregnancy rates, and adverse ...

eLife 2022;11:e71094 doi: 10.7554/eLife.71094Brief summary: Using placental perfusion, placental fragment culture and primary term human cytotrophoblast culture experiments, the authors signify the relationship between maternal vitamin D, placental vitamin D metabolism and fetal vitamin D exposure.In this study, the uptake of radio-labelled vitamin D (13C-25(OH)D...

To read the full abstract: Proc Natl Acad Sci USA. 2018; 115(52): E12265–E12274.The adrenal cortex plays a central role in regulating body homeostasis through the production of glucocorticoids and mineralocorticoids that control many important physiologic functions, such as metabolism, inflammation and arterial blood pressure. The production of these hormones, known as steroid...

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...