ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Pediatr Rheumatol Online J. 2017Aug 22;15(1):68This large prospective study analysed growth in children with JIA during a 3-year period from diagnosis. Interesting findings emerge: the heights and weights of these patients, clearly compromised in historical cohorts, appeared nearly normal. Increased risk of growth impairment was noted in patients with systemic arthr...

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...

Brief Summary: This translational study reveals a novel mechanism underlying syndromic gonadal dysgenesis (GD). It introduces a condition termed INDYGON syndrome (Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY GONadal dysgenesis).46,XY gonadal dysgenesis (GD) is a rare disorder of sex development (DSD) affecting 1-9 per 100,000 live births. Gen...

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...

Nat Med. 2020 Oct;26(10):1583–1592 Abstract: https://pubmed.ncbi.nlm.nih.gov/32807933/In brief: Improved treatments for osteoarthritis and other degenerative joint diseases are urgently needed. This study demonstrates, for the first time, that the synovial microenvironment can be modified to allow resident skeletal stem cells to form hyaline articular cartilage and thereby reg...

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):13680–13688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

Pediatr Blood Cancer. 2021; 68: e28894. https://pubmed.ncbi.nlm.nih.gov/33459500/This cross-sectional observational study examined reproductive function in a nationwide cohort of female childhood acute lymphoblastic leukemia (ALL) survivors.Self-reported reproductive characteristics (age at menarche, virginity status, desire for children, pregnancy rates, and adverse ...

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...

J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35113812/In brief: Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI) where most children, of all forms of OI, with significant fracture history, are managed by bisphosphonates...

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 1–9 cases per 100,000 live-births. GD can be classified as either complete...