ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this experimental study, pancreas-derived mesenchymal stem cells (PMSCs) were implanted into the kidney capsule of mice with streptozotocin (STZ)-induced diabetes. PMSCs led to increased levels of IL-6 in T-helper 1 and T-helper 17 cells, which transiently activated tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ), which in turn decreased levels of interleukin-17. This was associated with exocrine pancreas regeneration and rescue of ...

Brief Summary: This study demonstrates that FADS2 is a major regulator of steroidogenesis in the adrenal gland due to its key role in shaping the lipidomic landscape of adrenocortical cells.Comment: The corticosteroids aldosterone and cortisol are produced in the zona glomerulosa and zona fasciculata of the adrenal cortex, respectively (1, 2). Excess production of aldosterone in primary hyperaldosteronism results in resistant hypertension and cardiovascu...

In Brief: The authors describe AlphaMissense, a machine-learning tool that predicts the pathogenicity of 71 million human coding variants. 22.8 million variants (32%) are classified as likely pathogenic and 40.9 million (57%) as likely benign. They provide these databases freely as resources to the international research community.These authors from Google DeepMind previously developed and released AlphaFold, a revolutionary machine-learning approach to ...

J Clin Endocrinol Metab. 2021, 106(10):e4142-e4154. doi: 10.1210/clinem/dgab352. PMID: 33999151.Brief Summary: The authors show that patients with hypopituitarism and FOXA2 gene defects also need screening for dysfunction of the pancreas.The Forkhead box A2 transcription factor (FOXA2) is important for normal development of the central nervous system, i...

Thyroid. 2022 May;32(5):496-504. doi: 10.1089/thy.2021.0685. Epub 2022 Mar 31. PMID: 35199588Brief Summary: This retrospective monocenter case-control study assessed levothyroxine requirements to achieve euthyroidism defined as two consecutive normal TSH measurements (0.3-4.7 mIU/L) separated by ≥ 6 weeks in adult patients with immune checkpoint inhibitor (ICI) associated permanent hypoth...

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920https://www.nature.com/articles/s41525-021-00274-wBrief Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. https://eje.bioscientifica.com/view/journals/eje/185/5/EJE-21-0387.xmlBrief Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...

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...

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: 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...