ESPE Yearbook of Paediatric Endocrinology

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...

To read the full abstract: N Engl J Med. 2018; 379(8): 711–721.In attempting to reduce the rate of death and disability associated with cardiac arrest worldwide, emergency medical workers have few effective treatments other than early initiation of cardiopulmonary resuscitation (CPR) and prompt defibrillation. Epinephrine (adrenaline) has potentially beneficial effects in cardiac ar...

To read the full abstract: Sci Adv. 2018 Nov 14;4(11):eaar8173The discovery of a 31-kilometer-wide impact crater in northwest Greenland, beneath up to a kilometer of ice, implies an instantly vaporizing rock that sent shock waves across the Arctic. Its impact must have had a powerful effect on global climate; a thousand-year global cooling event.You may be...

To read the full abstract: PLoS Genet 2018;14:e1007698.These authors studied human placental and decidual tissues obtained from elective pregnancy terminations (6–12 weeks gestation). Placental extravillous trophoblasts (EVTs), the cells that rapidly invade the mother’s endometrium, undergo an initial stage of genomewide amplification leadi...

To read the full abstract: Mol Metab. 2017 Oct; 6(10): 1321–1329See comment on 11.7...

In Brief: This comprehensive genome-wide association study (GWAS) identified over 20 000 loci associated with adult height. This groundbreaking research revealed that up to 21% of the human genome can be linked to variation in human height, providing a deeper understanding of the complex regulation of human height.Commentary: This one of the largest GWAS to date involving 5.4 million individuals. It discovered 12 111 independent SNPs associated with adul...

Brief summary: This international multicentre study collected data from 104 290 children and adolescents (6 months-18 years-old), to compare prevalence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) before and during the COVID-19 pandemic. Prevalence of DKA at T1D diagnosis increased from 27.3% pre-pandemic to 39.4% during the pandemic, and the increased trends were associated with the pandemic containment measures.DKA is a life-thr...

Brief summary: The World Professional Association for Transgender Health (WPATH) has issued an updated Standards of Care version 8 which contains important guidelines on how the assessment of gender variant children and adolescents should be considered, and by whom, and provides guidance around the consideration of young people for hormonal intervention.This long and detailed document has had considerable input from many experts involved in transgender c...

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...

To read the full abstract: N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279.This remarkable case report - by authors from Boston Children’s Hospital and funded by Mila’s Miracle Foundation - describes the development and use of a patient-customised antisense oligonucleotide drug that was tailored specifically against the unique DNA sequence mutation in a 6-ye...