ESPE Yearbook of Paediatric Endocrinology

Nat Commun. 2020;11(1): 2673.https://pubmed.ncbi.nlm.nih.gov/32471973/The authors conducted an experimental study in male human volunteers to examine the effects of a neurokinin type 1 receptor (NK1R) antagonist on aldosterone secretion. The findings show the presence of Substance P (SP)-positive nerve fibres in the human adrenal cortex in the vicinity of aldosterone-producing cells and wit...

EMBO Rep. 2020;21:e50612. doi: 10.15252/embr.202050612.This zebrafish study identified and molecularly characterized adult transcriptionally different thyrocyte subpopulations even within the same follicle.It is well established that within a thyroid gland, follicles are heterogenous concerning functional activity. More active follicles are characterized by a high co...

To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...

Lancet Glob Health 2019;7: e132–47. DOI: 10.1093/cid/civ844• This cluster-randomised, community-based trial investigates whether the combination of a water, sanitation and hygiene (WASH) intervention and of improved infant and young child feeding (IYCF) intervention improves stunting and anemia in children living in rural Zimbabwe.• Stunting decreased with ...

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...

To read the full abstract: Nat Metab 2019;1:1202–1208.Metformin has become a mainstay in the treatment of T2DM in over six decades of clinical use and is today one of the world’s most commonly prescribed drugs. Anti-diabetic properties of metformin rely on an inhibition of hepatic glucose output through AMPK-dependent, but also AMPK-independent effects (reviewed in (1)). Neverthel...

Brief Summary: This study explored the relationship between Somatostatin Receptor 2 (SSTR2) immunoreactivity and succinate dehydrogenase complex iron sulfur subunit B (SDHB) immunoreactivity, mutational status, and clinical behavior of paragangliomas (PPGLs), and evaluated SSTR-based therapies in metastatic PPGLs. The findings highlight SSTR2 expression as a novel biomarker for metastatic behavior in PCC, PGL and SDHB/ SDHx mutations. They also suggest that SSTR-based therapie...

Eur J Prev Cardiol 2022;29(5):758-65. doi: 10.1093/eurjpc/zwab152Brief Summary: This retrospective study identified an association between high maternal cholesterol levels during pregnancy with more severe heart attacks in young adult offspring.Comment: During pregnancy, physiological increases in total cholesterol and triglyceride (TG) levels occur due to increases in i...

In Brief: Clinical symptoms of Pseudohypoparathyroidism (PHP) and related disorders present during late childhood and adulthood. This study found that newborns with this group of conditions require specific care at birth due to increased risk of neonatal complications.Commentary: Pseudohypoparathyroidism (PHP) and related disorders, newly referred to as inactivating PTH/PTHrP signalling disorders (iPPSD), are rare endocrine diseases. Their many clinical ...