ESPE Yearbook of Paediatric Endocrinology

Pediatr Res. 2021; 92(1):265-274. doi: 10.1038/s41390-021-01739-5. PMID: 34556810https://pubmed.ncbi.nlm.nih.gov/34556810/Brief Summary: This study provides a detailed set of normative reference values for steroidogenesis during the first 6 months of life, which may facilitate rapid testing of infants for steroidogenic disorders.<p...

Psychoneuroendocrinology. 2022; 136: 105625. PMID: 34920399https://pubmed.ncbi.nlm.nih.gov/34920399/Brief Summary: This is a systematic review and meta-analysis examined the relationship between cortisol and major depressive disorder in global youth (10–24 years old).Impaired regulation of the hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the de...

Proc Natl Acad Sci U S A. 2021 Oct 12;118(41):e2107208118. https://pubmed.ncbi.nlm.nih.gov/34611019/Brief Summary: This in vitro study explored the reactivity to preproinsulin of CD8 T cells obtained from pancreatic islets of individuals with and without type 1 diabetes (T1D). The main finding was that CD8 T cells from T1D donors were highly reactive to peptides throughout the entire prepro...

To read the full abstract: Thyroid. 2019;29:790–801.Patients with mutations in the dual oxidase 2 (DUOX2 ) gene – encoding a NADPH oxidase that generates hydrogen peroxidase for iodide organification – have been repeatedly reported as not being detected by neonatal screening because it causes only mild hyperthyrotropinemia at birth. Here, Peters et al. determined the incidence of DUOX2 and dual oxidase 2...

To read the full abstract: J Clin Endocrinol Metab ;105(4):e1847–e1861.The REAL 3 multicenter randomized, controlled, double-blind phase 2 study evaluated the efficacy and safety of different doses of once-weekly Somapacitan, compared to conventional once-daily GH in 59 prepubertal GHD children. The treatment period lasted 26 weeks and an additional extension to 52 weeks. At week 26, height velocity (HV) was 7.8, 10.9 and 13.1 cm/year, resp...

To read the full abstract: Sci Rep 2020;10:6935.In brief: A well-defined and optimized protocol using confocal microscopy allowed novel insight into growth plate chondrocyte differentiation by quantitative analysis of cellular characteristics of murine growth plate samples.Commentary: The growth plate is a complex tissue with a unique morphology char...

To read the full abstract: Pediatr Blood Cancer. 2019;66(12):e27981. sgeorg4@emory.eduThis cross-sectional study tested the concordance between young adult (or parent proxy)-reported premature ovarian insufficiency (POI) and biochemical evidence of POI, defined as FSH ≥40 mIU/ml, in 182 childhood cancer survivors (CCS) who had received gonadotoxic therapy. Reported POI was defined as the survivor taki...

To read the full abstract: J Endocrine Society 2020; 4 (2): 1–13. doi: 10.1210/jendso/bvz013• The authors performed a retrospective analysis of the economic burden in a cohort of 195 patients with genetically confirmed CAH born in São Paulo where there is presently no neonatal screening for CAH.• The cost associated to mortality of undiagnosed patients was estimated to ra...

To read the full abstract: Science 2019;363(6424).A wide range of human diseases result from haploinsufficiency, where gene expression is decreased as compared to normal conditions. Haploinsufficiency is a typical mechanism in autosomal dominant disorders. Rare mutations in Sim1 or Mc4r are models of haploinsufficiency causing severe early-onset obesity with hyperphagia...

To read the full abstract: Thyroid. 2019;29:595–606.Here, ultrastructural analysis of primary cilia in human thyroid follicles revealed a direct relationship between frequency and length of primary cilia and the functional state of the individual follicle in normal compared to hyperfunctioning thyroid tissues.Primary cilia are present in many different tissues...