ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature, Vol. 560, p. 291, 10 August 2018For the first time, a drug based on the mechanism gene-silencing through RNA interference (RNAi) has received regulatory approval. We can expect that this is a forerunner of a new class of drugs targeting disease-causing genes.It has been known for 20 years that short RNA molecules can attach ...

To read the full abstract: JAMA 2017;318:1109-1110Here, Howard Bauchner provides a thoughtful article on the increasing rush to publishing science. As authors and readers, there are many apparent benefits. Over the past 5 years, the time from manuscript submission to article publication has halved for all JAMA journals. However, there are also major pitfalls, including the red...

Clin Endocrinol Metab. 2021;106(2):431–441. doi: 10.1210/clinem/dgaa842. PMID: 33205215This study aimed to describe the clinical characteristics of 6 patients with NPR2 gene mutations and the response to rhGH treatment in 2 of them.The natriuretic peptide receptor 2 gene (NPR2) is a paracrine factor involved in the regulation of cell proliferati...

To read the full abstract: Nat Commun 10, 4693 (2019).In brief: A specific anion binding site senses moderate changes of inorganic phosphate levels leading to rapid inhibition of CaSR responsiveness and PTH secretion in a murine and human in vitro model system.Commentary: Phosphate sensing represents a crucial process in the regulation of ph...

To read the full abstract: Cell. 2019;179(6):1276–88 e14. doi: 10.1016/j.cell.2019.10.034Short summary: Deficiency in the orphan G protein coupled receptor 146 (GPR146) decreases blood lipid levels and protects against atherosclerosis in mice, independent of LDL receptor activity.Comment: Monogenic hypercholesterolemia is a heterogeneous gro...

Mol Cell Endocrinol. 2018 Jun 15;468:60–69.doi: 10.1016/j.mce.2018.04.003. PubMed PMID: 29655603Since the description of the first DSD gene, SRY, in the early 1990s (OMIM 480000), genetics has become a major player in research and clinical workup of DSD. The advances of today’s technologies in genetics and the limitations are summarized in this r...

Anthropol Anz. 2018 Jun 11;74(5):365–376. DOI: 10.1127/anthranz/2018/0828• This literature review evaluated the phenomenon of faster growth, earlier maturation and often taller adult height in migrant youth as compared to their non-migrant relatives.• The authors propose a new framework to understand growth regulation and determinants of adult heigh...

Diabetologia. 2021 Mar;64(3):630-640. doi: 10.1007/s00125-020-05346-7. PMID: 33404684.The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provided these authors a unique opportunity to study the molecular basis of CHI and to develop potential novel treatment options by screening...

Lancet Glob Health 2020; 8: e1546–54. doi: 10.1016/S2214-109X(20)30388-0– Hypoglycemia is associated with increased mortality in severely sick children. WHO recommends treatment of hypoglycemia for a blood glucose < 2.5 mmol/l– The authors hypothesized that increasing the threshold for the treatment of hypoglycemia from 2.5 to 5 mmol/l would reduce all cause in-hos...

Clinical Endocrinology. 2022; 96:220–226. PMID: 34596269Brief Summary: This randomized controlled trial evaluated the effects of testosterone and aromatase inhibitor treatment on anthropometric measures, and their correlation with estradiol and testosterone serum levels in boys with constitutional delay of growth and puberty (CDGP), to elucidate the respective roles of the two sex steroid hormones on growth during puberty. The results sugge...