ESPE Yearbook of Paediatric Endocrinology

Brief summary: This multicenter, randomized, controlled, phase 3 study compared the effects of long-acting GH (Somapacitan; 0.16 mg/kg/wk) with daily GH (Norditropin; 0.034 mg/kg/d), in GHD children. The trial was conducted over 52 weeks, followed by an ongoing 3-year single-group extension period. Similar efficacy and safety for somapacitan compared to daily GH was demonstrated over 52 weeks of treatment.Long-acting growth hormone (LAGH) formulations ha...

Brief summary: In this study, 10 145 children of 1–8 years of age, selected from a prospective systematic cohort study and stratified according to HLA-risk categories for type-1-diabetes (T1D), underwent a combined evaluation of pancreatic autoimmunity, glucose metabolism and anthropometry at different timeframes. Diagnosis of T1D occurred in 131/10,145 children (1.3%). Faster height growth, both before and after age 3 years, was significantly associated with the appearan...

Brief summary: Using data from the Type 1 Diabetes Intelligence (T1DI) cohort (n=24 662), this prospective study aimed to identify optimal ages for initial islet autoantibody (IAb) screening to predict the development of clinical type 1 diabetes (T1D). The identified optimal screening ages were 2 years and 6 years, with sensitivity of 82% and positive predictive value of 79% for T1D by age 15 years.Screening for T1D is a growing research topic a...

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...

Elife. 2021 Jun 15;10:e67714. doi: 10.7554/eLife.67714. PMID: 34128468https://elifesciences.org/articles/67714Brief Summary: This histological and transcriptomic study evaluates the presence and the potential role of extra-hypothalamic GnRH neurons in humans and identifies cholinergic GnRH-synthesizing cells in the human basal...

To read the full abstract: PLoS biology vol. 17,11 e3000532. 7 Nov. 2019. doi: https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.3000532This study unravels the role of the miR-30/Mkrn3 pathway in the hypothalamic regulation of puberty Puberty onset is triggered by a hypothalamic network of interconnected...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(1): dgz055. PMID: 31613957.Mineralocorticoid (MC) replacement therapy along with glucocorticoid (GC) replacement is crucial to avoid life-threating adrenal crises in Addison´s disease (AD) and in classical CAH (1–3). MC is administered with the aim of achieving plasma renin concentration (PRC) within the upper limit of ...

Abstract Link: Nat Genet. 2019 Jan;51(1):96–105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...

To read the full abstract: Mol Cell Endocrinol 2018; 15;473:166-177Signal transducers and activators of transcription (STAT) proteins are transcription factors transiently activated by different ligands such as cytokines, growth factors, or peptides, which trigger intracellular tyrosine phosphorylation along the JAK-STAT signaling pathway. Phosphorylated STAT induces...