ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2022 Feb 17;107(3):638-648. doi: 10.1210/clinem/dgab798. PMID: 34726229Brief Summary: This large monocenter retrospective cohort study (n=469) of patients diagnosed with congenital hypothyroidism (CH) identified predictors of transient vs. permanent CH. The authors developed a 4-item risk score (0-13 points) to be used from the age of 12 months on to predict t...

Front Endocrinol (Lausanne). 2022 Mar 16;13:869019. doi: 10.3389/fendo.2022.869019. PMID: 35370973. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966543/Brief Summary: This mouse study explores the function of alpha-tanycytes, which are neurogenic stem cells located in the medio-basal hypothalamus and expres...

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...

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: J Clin Endocrinol Metab. 2020; 105(5): 1427–1434. PMID: 31853550.GDF15 is a stress-induced hormone that acts in the hindbrain to activate neural circuits involved in aversive responses and reducing food intake and body weight in animal models (1). In humans, GDF15 is widely expressed, with highest concentrations seen in placental trophoblasts, followed by kid...

To read the full abstract: Cell. 2019;179, 1–17. doi: https://pubmed.ncbi.nlm.nih.gov/31761534/The current study demonstrates that primary cilia, which are present on all adult mesenchymal stem cells including preadipocytes, play a major role in adipogenic differentiation. Using a transgenic mouse model where all preadipocytes were devoid of cilia, they could elegantly show that cilia ...

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

Abstract: FASEB J. 2019;33:4962–4974.In brief: Glucocorticoid-induced growth impairment is reverted by the mitochondrial peptide humanin in dexamethasone-treated mice without attenuation of anti-inflammatory effects.Comment: Humanin (HN) is a 24 aminoacid peptide that was originally discovered as a neuroprotective factor and later shown ...

Abstract: Lancet Diabetes Endocrinol. 2019 Feb;7(2):93–105.In brief: The study reports outcomes of a single-arm 7-year phase 2 extension trial of Asfotase alfa for infants and children with life-threatening hypophosphatasia who received a median of 6·6 years of therapy. The early improvements previously reported were sustained for up to 7 years of treatment.<p class...

To read the full abstract: Lancet Diabetes and Endocrinology 2018; 6: 114–121Cystic fibrosis (CF)-related diabetes (CFRD) impacts significantly on mortality and quality of life. Impaired glucose metabolism and CFRD are associated with poor weight and height gain and impaired lung function in children and adolescents (1). In that study, height and weight were lower in CF patients wit...