ESPE Yearbook of Paediatric Endocrinology

N Engl J Med 2021; 384:252–260 https://www.nejm.org/doi/full/10.1056/NEJMoa2031054In the Yearbook, we have been following the CRISPR story since its very beginning. Last year, Emmanuelle Charpentier and Jennifer Doudna were awarded the Nobel Prize in Chemistry for discovering the CRISPR-Cas9 gene editing tool. Here, scientists have published the first successful treatment (as...

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...

Nat Metab. 2022 Feb;4(2):284-299. https://pubmed.ncbi.nlm.nih.gov/35228745/Brief Summary: This study used three high-throughput single-cell technologies to generate a pancreatic islet cell atlas from 24 organ donors with type 1 diabetes (T1D), autoantibody positive and healthy donors. The most remarkable finding was that a subset of exocrine ductal cells appears to acquire a signature of to...

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...

To read the full abstract: J Clin Invest 2019;129:5187–5203.In brief: This report establishes inhibition of salt-inducible kinases as a central mechanism by which the parathyroid hormone 1 receptor (PTH1R) exerts its effects in both growth plate chondrocytes and osteoblasts/osteocytes during skeletal development, growth, and remodelling.Commentary</e...

To read the full abstract: J Cancer Res Clin Oncol. 2020 Jun;146(6):1451–1462. marloes.vandijk@amsterdamumc.nlChemo- and radiotherapy administered during childhood may compromise female reproductive function leading to premature depletion of the ovarian follicle pool. Childhood cancer survivors (CCS) women who pursue pregnancy may experience a lengthening of the time required to become pr...

To read the full abstract: N Engl J Med. 2019 Aug 15;381(7):603–613. doi: 10.1056/NEJMoa 1902226.Type 1 diabetes (T1DM) is a chronic autoimmune disease that leads to destruction of insulin producing beta cells, which leaves the patient dependent on exogenous insulin for survival. Some interventions have delayed the loss of insulin production in T1DM, but interventions to prevent clinic...

To read the full abstract: J Clin Invest. 2020;130(5):2209–2219. doi: https://pubmed.ncbi.nlm.nih.gov/31961826/This clinical study addressed the chronic effects of the β3-adrenergic receptor agonist mirabegron on BAT activity, blood parameters, and insulin sensitivity in a small cohort of healthy women (n =14). Participants were treated for 4 weeks orally with mirabegron ...

Abstract: Lancet. 2019 May 16.In brief: In a randomised, active-controlled, open-label, phase 3 trial, burosumab (an anti-FGF23 antibody) demonstrated significantly greater clinical improvements in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia compared with continuation of conventional therapy with oral phosphate and active vitamin D ...