ESPE Yearbook of Paediatric Endocrinology

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...

Diabetes Care. 2022 May 20:dc211652. https://pubmed.ncbi.nlm.nih.gov/35594057/Brief Summary: This longitudinal study reports trends in diabetic retinopathy (DR) and macular edema (DME) across 3 decades: 1990-1999, 2000-2009, 2010-2019, in a large Australian cohort of 2404 adolescents with type 1 diabetes (T1D). The prevalence of DR decreased between 1990-1999 and 2000-2009, from 40 to 21%, ...

To read the full abstract: Nat Commun. 2019 Aug 16;10(1):3696. doi: 10.1038/s41467-019-11667-y. PMID: 31420539.The hypothalamic arcuate nucleus (ARC) controls crucial physiological processes, such as growth, reproduction and energy homeostasis. However, it is unknown how ARC neurons gain their unique cellular identities and what are their developmental relationships. Here, the authors i...

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: 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: 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...

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: J Clin Endocrinol Metab. 2020; 105(3): dgz255. PMID: 31825489.P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive variant of congenital adrenal hyperplasia (CAH) arising from homozygous or compound heterozygous mutations to the gene encoding the enzyme P450 oxidoreductase (POR ) (1). Patients with PORD have a range of skeletal malformation...

To read the full abstract: J Clin Med. 2019;8(12):2204. sandrolavignera@unict.itThis cross-sectional study evaluated morpho-volumetric development of the testis, endocrine function and sperm parameters in 102 young adult childhood cancer survivors (CCS). About 1/3 of patients showed low testicular volume (<24 ml); the Hodgkin disease group showed significantly lower total testicular volumes, comp...

To read the full abstract: Nat Commun. 2020;11(1):1841. Published 2020 Apr 15. doi: https://pubmed.ncbi.nlm.nih.gov/32296068/This study by Kullmann et al. investigated the impact of brain insulin resistance on medium and long-term changes in body weight and body fat in adults at high risk for T2DM, undergoing a 24-months lifestyle intervention program (n =28 at the 24-mont...