ESPE Yearbook of Paediatric Endocrinology

Hum Mol Genet ddac107 (2022)Abstract: https://pubmed.ncbi.nlm.nih.gov/35567544/In Brief: Disproportionate tall stature represents a hallmark feature of Marfan syndrome, although specific mechanisms underlying linear bone overgrowth are unclear. This study used an ex vivo model system to identify dysregulation of TGFβ-binding proteins in the outer perichondrium as causative for the bon...

fragaudio@alice.it British Journal of Haematology, 2022, 196, 110–115. PMID: 34462914.Brief Summary: This prospective single-centre study evaluated fertility in men diagnosed with Hodgkin lymphoma (HL) by sperm analysis, in order to identify clinical and biological characteristics correlated with fertility status. Only 28% of men showed normal sperm analysis.Previous studies in ...

Nat Med. 2021 Dec;27(12):2104-2107. https://pubmed.ncbi.nlm.nih.gov/34887578/Brief Summary: This study used single-cell transcriptomic analyses to generate a cell atlas of the human fetal and neonatal small intestine. Notably, the authors identified a subset of fetal enteroendocrine K/L cells (named FIKL) that express high levels of insulin and other beta cell genes.T...

jchanoine@cw.bc.ca BMJ Global Health 2021;6:e007195. doi: 10.1136/bmjgh-2021-007195Brief Summary: This review found that access to oral fludrocortisone and hydrocortisone remains suboptimal in the WHO Eastern Mediterranean Region. Improvement requires a collaboration between health professionals, families of patients, health authorities, pharmaceutica...

European Journal of Endocrinology (2022)187:15–26 doi: 10.1530/EJE-21-1130Brief Summary: This study, PROGRAM32, investigated 287 adults mean age 32 years who had participated 10 years earlier in the PROGRAM study on the metabolic and cardiovascular consequences of low birth weight (LBW). The aim was to investigate the adverse metabolic profile of being small for gestational age with spontane...

Cell. 2021 Oct 28;184(22):5506–5526. doi: 10.1016/j.cell.2021.09.034Brief Summary: The authors review the function and the underlying molecular mechanisms of 4 major species of endogenous cytoplasmic DNA (cytoDNA) in the development of chronic ageing-associated diseases.In the presence of foreign DNA (e.g. viral infections), innate immunity acts as a defence mec...

To read the full abstract: Clin Endocrinol (Oxf) 2020 May 13. doi: 10.1111/cen.14221. Online ahead of print.Children born either small for gestational age (SGA) or preterm usually do not achieve a final height (FH) in the mid-parental target height (MPTH) range, despite showing catch-up growth in the first years of life (1). The influence of intrauterine metabolic and hormonal factors has been p...

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: Environmental health perspectives vol. 127,10 (2019): 107011. doi: https://ehp.niehs.nih.gov/doi/full/10.1289/EHP5570?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedThis study identifies the effects of exposure to environmentally rel...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...