ESPE Yearbook of Paediatric Endocrinology

anton.holmgren@regionhalland.se Pediatr Res. 2021 Jul;90(1):184–190. doi: 10.1038/s41390-020-01234-3.Brief Summary: This observational study compared the pubertal growth spurt of children in a Spanish study group with severe early onset obesity to children in a Swedish community-based study. The authors show that childhood obesity i...

Brief Summary: This study investigated the effects of anorexia nervosa (AN) on the insulin-like growth factor (IGF) axis in female adolescents. It evaluated levels of various proteins and their role in the IGF axis, including pregnancy-associated plasma protein A2 (PAPP-A2) and stanniocalcins (STC-1 and STC-2). The reduced levels of PAPP-A2 may impair IGFBP cleavage, thereby reducing IGF-I bioavailability. IGF1 plays a crucial role in regulating growth, metabolism, and bone he...

To read the full abstract: Endocrinology. 2018 Jan 1;159(1):368-387Hypothalamic inflammation has been linked to the development and progression of obesity and its sequelae. Obesity in rodents and humans is associated with gliosis of the arcuate nucleus, a key hypothalamic region for the regulation of energy homeostasis and adiposity. Gliosis, the activation of astrocyte and microglial cell popula...

Brief summary: Growth Hormone (GH)-Insulin-Growth-Factor-1 (IGF-1) axis plays the major role in promoting growth, but novel factors seem to modulate GH-IGF1 axis functioning. The majority of circulating IGF-1 and IGF-2 are bound to IGF-binding proteins (IGF-BPs) which prolong their half-life and regulate their tissue distribution (1,2). Pappalysins (PAPP-A, PAPP-A2) increase IGF-1 bioavailability through cleavage of IGFBPs and are inhibited by stanniocalcins (STC1, STC2) (3,4)...

Brief Summary: This cross-sectional study identifies two pathogenic variants in the Delta-like noncanonical notch ligand 1 ( DLK1 ) gene in a French cohort of 121 children with idiopathic central precocious puberty (CPP).DLK1 is a noncanonical ligand of the Delta Notch pathway known to be involved in adipocyte differentiation. Its hypothalamic expression suggests a potential role in coordinating reproductive and metabolic functions. Pathogenic v...

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1041–1050. 10.1210/clinem/dgaa955. PMID: 33383582. https://academic.oup.com/jcem/article-abstract/106/4/1041/6056669?redirectedFrom=fulltextIn brief: This paper describes the clinical and hormonal features of a large cohort of patients wit...

Lancet Diabetes Endocrinol. 2020 Dec;8(12):960–970.https://pubmed.ncbi.nlm.nih.gov/33137293/This article reports the results of two single-arm, open-label, multicentre, phase 3 trials of the MC4R agonist, setmelanotide, in patients with severe obesity due to pro-opiomelanocortin (POMC) deficiency or leptin receptor (LEPR) deficiency. Mean % change in bodyweight after ~1 year was &#8722...

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...

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...