ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Science 2018;359:1376-1383The metabolic syndrome (MetS) is associated with dysfunctions of the intestinal barrier, leading to increased permeability and translocation of microbial molecules into the intestinal lamina propria and to circulation. The entry of pathogens through an impaired barrier leads to an increased risk of infection, as well as to chronic inflammation...

Brief summary: This open-label extension trial enrolled all subjects completing the two previous phase 3 Lonapegsomatropin trials, heiGHt and fliGHt. The results confirm the efficacy of this LAGH formulation in improving height SDS, without major adverse events.Lonapegsomatropin is a long-acting GH consisting of 3 components: unmodified human GH (hGH), an inert glycol carrier, and a TransCon linker that transiently binds the other 2 components. The glyco...

In Brief: The 11th edition of the ‘Nosology’ is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...

In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individual’s lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.Commentary: Individuals with achondroplasia present with a range of clinic...

Brief summary: The authors designed a polygenic risk score (PRS) to aid in estimating disease susceptibility in patients with autoimmune Addison’s disease (AAD).Autoimmune Addison’s disease (AAD) is the most common cause of primary adrenal insufficiency (PAI) in adults. Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients are lacking (1–3). The aim of this study was t...

Brief summary: This single-center, retrospective, cross-sectional study compared the prevalence of gonadal insufficiency and infertility among 58 pubertal, post pubertal and young adult survivors of hematopoietic stem cell Transplantation (HSCT), treated with conditioning regimens of different intensity.Gonadal insufficiency or infertility affects almost all HSCT survivors who received a myeloablative conditioning (MAC) regimen. In recent years, reduced-...

Brief summary: This French multicenter prospective study analyzed uterine volume by pelvic MRI in 88 women (age range 18–40 years), who were survivors of childhood acute leukemia treated with hematopoietic stem cell transplantation (HSCT). They were compared to 88 healthy women matched for age and parity.Conditioning regimens before HSCT included alkylating agents for 34 women and total body irradiation (TBI) for 54 women. Scans were centralized and...

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...

Brief Summary:The female ovary is essential for reproduction. Oocytes are stored in it for more than a year in mice, and for more than four decades in humans. This study investigated proteostasis in oocytes and ovaries of mice by combining quantitative mass spectrometry (MS), pulse–chase labelling, single-cell RNA-seq and nanoscale secondary ion MS (NanoSIMS). They found extraordinary stability of hundreds of proteins. Long-lived proteins were enriched in diverse cellular...

In Brief: The authors perform a population intervention effects analysis of 33 longitudinal cohorts (total 83 671 children, 662 763 measurements), from 15 low- and middle-income counties (LMICs). They estimate that improving maternal anthropometry and child condition at birth would increase population mean length-for-age z-scores by up to 0.40 and weight-for-length z -scores by up to 0.15 by 24 months of age.This is 1 of 3 full articles publishe...