ESPE Yearbook of Paediatric Endocrinology

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...

J Clin Endocrinol Metab. 2020 Dec 1;105(12): dgaa585.https://pubmed.ncbi.nlm.nih.gov/32844182/The aim of this histological study was to investigate DNA methylation and expression of genes encoding steroidogenic enzymes in benign adrenocortical tumors. The findings suggest that DNA methylation plays a regulatory role in CYP11B2 expression and may contribute to aldosterone hypersecretion in a...

Lancet Healthy Longevity 2021 10.1016/S2666-7568(21)00086-6.In brief: Using a multivariable Mendelian randomization approach, genetic data on lipoprotein lipid levels and disease outcomes indicated that higher Apolipoprotein B (ApoB) levels increase the risks of coronary heart disease, stroke and T2DM, and shorten longevity. ApoB is emerging as a more sensitive measure of disease r...

PLoS ONE 2021;16: e0245372. doi: 10.1371/journal.pone.0245372– According to pharmacopeia, unopened insulin vials must be stored in a refrigerator (2–8 °C) while storage at ambient temperature (25–28 °C) is usually permitted for the 4-week usage period during treatment– The authors investigated whether insulin remains stable and retains biological activity...

Pituitary. 2021;24(2):252-261. doi: 10.1007/s11102-020-01105-4. PMID: 33156432.Brief Summary: Pituitary gigantism is a rare disease, which can be syndromic, as in McCune-Albright syndrome, Carney complex, MEN1 and MEN4, and the newly described “three P association” (paraganglioma, pheochromocytoma and pituitary adenoma) (1), or non-syndromic caused by mutations ...

Epigenomics. 2021 Aug;13(15):1221-1230. doi: 10.2217/epi-2021-0096. PMID: 34337972.Brief Summary: This case cohort study assessed whether epigenetic factors explain the link between gestational diabetes mellitus (GDM) and macrosomia. Epigenetic changes in the MEST gene were associated with both GDM and macrosomia.GDM leads to neonatal macrosomia and in the long-t...

Clin Transl Med. 2021 Jan;11(1):e265. Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/33463067/In brief: In order to explore safety, efficacy, and feasibility of repeated infusions of mesenchymal stem cells (MSCs) as a treatment for OI, two pediatric OI patients were treated with repeated infusions of HLA-matched MSCs. The patients tolerated the treatment well and ...

Nature. 2021 Jul;595(7867):455-459.Abstract: https://pubmed-ncbi-nlm-nih-gov/34194040/In brief: Using cryo-electron microscopy, the calcium-sensing receptor (CaSR) is visualized with different ligands demonstrating, in great detail, how calcimimetic drugs lock the CaSR homodimer in an assymetric configuration, exposing one of the two protomers for G-protein coupling, whereas calciolytic dru...

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...