ESPE Yearbook of Paediatric Endocrinology

In Brief: Osteogenesis imperfecta (OI) is a genetically and phenotypically heterogeneous disorder which leads to significantly reduced quality of life (QoL) and high morbidity primarily due to frequent fractures, musculoskeletal pain, reduced mobility and loss of ambulation. This meta-analysis shows that QoL is significantly lower in children and adults with OI compared to normative data and controls.Commentary: Quality of life (QoL) is a multidimensiona...

Brief summary: This in vivo study identifies a new gene, CDYL (Chromodomain Y-like protein) in the epigenetic control of sex determination in mice.Recent findings on mammalian sex development suggest that the fate decision of bipotential gonads depends not only on transcriptional activation of Y-linked testis-determining gene (SRY/Sry) but also on a delicate expression balance between the mutually antagonistic pro-testis and pro-ovarian genes. P...

Brief summary: This literature review summarized the recent advances in our understanding of the GnRH system throughout life and its implication in the brain development beyond its conventional role in reproductive control.During embryonic development GnRH neurons migrate from the olfactory placode to the hypothalamus, where they control the hypothalamus–pituitary–gonadal axis (1,2). But many GnRH neurons migrate to other brain regions, such as...

Brief summary: This review provides an update on the possible actions of metformin beyond glucose regulation in the liver. It summarizes recent findings regarding its action in the gastrointestinal tract, on gut microbiota and tissue-resident immune cells and thereby gives insight into studies addressing its immune-modulating and anti-inflammatory effects for possible use as treatment against inflammation- and age-related diseases, as well as cancer. Current knowledge of metfo...

Brief summary: This prospective study, including 380 American girls followed from birth to age 15.5 years between 1991 and 2006, showed the predictive nature of age at onset of puberty for the subsequent progression and duration of pubertal maturation.Ze’ev Hochberg’s scientific and clinical curiosity is an inspiration for us all. Ze’ev approached the topic of puberty using evolutionary and developmental biology principles, according to wh...

Diabetes Care. 2020;43(2):484–486. doi: 10.2337/dc19-1487.This retrospective study in Quebec, Canada included 3,544 adolescents and young adults with diabetes and 1 388 397 without diabetes. It concludes that between the ages of 15 and 25 years, the risks of psychiatric disorders and suicide attempts were substantially higher in adolescents and young adults with diabetes than those without ...

Pediatrics 2021 Mar;147(3):e2020024182. 10.1542/peds.2020-024182 https://pubmed.ncbi.nlm.nih.gov/33526606/This sub-analysis of Teen-LABS study shows very similar improvements over 5 years after bariatric surgery between younger and older adolescents with severe obesity in %BMI change (−22.2% vs. −24.6%, respectively), resolution...

Diabetes. 2022 1;71(6):1233-1245. doi: 10.2337/db21-0992. PMID: 35294000.Brief Summary: This mouse model of diabetes tested the hypothesis that reducing the metabolic flux (rate of metabolism) in the beta cell can prevent beta-cell failure and preserve beta-cell mass. Reducing glucose metabolism may be a mechanism for preventing glucotoxicity-induced loss of functional beta-cell mass in diabetes. <...

J Bone Miner Res 36, 1387–1402. (2021)Abstract: https://pubmed-ncbi-nlm-nih-gov/33724538/In brief: Premature growth plate closure under anti-hedgehog treatment is caused by impaired retinoic acid metabolism in growth plate progenitor cells. In this mouse model, administration of retinoic acid receptor blockers rescued the phenotype and normalized growth plate maturation.<p class="a...

Lancet Diabetes Endocrinol. 2021; 9(12):876-892. PMID: 34798068https://pubmed.ncbi.nlm.nih.gov/34798068/Brief Summary: This review summarizes the current knowledge on the epidemiology, genetic background, pathophysiology, clinical presentation, diagnosis and treatment of primary aldosteronism.This review article on primary aldosteronism (PA) describes its clinical char...