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...

Brief Summary: This cohort study examined the longitudinal growth trajectory of children with congenital hypothyroidism (CH) during the first 3 years of life. It involved 1474 children in Isfahan Province, Iran, and analyzed data from 2002-2022 since the initiation of CH screening (May 2002).Overall, 38.8% of children with CH were born of consanguineous marriages and 61.6% were delivered by cesarian section, one of the highest rates in the world1,2<...

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...

Brief Summary: This review provides a comprehensive summary of the current research, pathophysiologic mechanisms and methodological factors regarding the utility of ncRNA as biomarkers for endocrine tumors.Comment: Clinical management of endocrine tumors has several challenges, including preoperative diagnosis regarding malignancy, monitoring of treatment and patient follow-up. The currently available biomarkers for endocrine tumors have important limita...

In Brief: This research letter describes a recent case series of 10 patients aged 21–39 years who started taking Semaglutide within 3 months of their diagnosis of antibody-positive type 1 diabetes (T1D), in addition to standard basal and prandial insulin. All 10 patients stopped prandial insulin within 3 months of Semaglutide, and 7 patients also stopped basal insulin by 6 months. Mean HbA1c fell from 11.7% at diagnosis to 5.9% at 6 months and 5.7% at 12 months. Mean fast...

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...