ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2020;105(10):dgaa491. doi: 10.1210/clinem/dgaa510. PMID: 32816013This study describes the clinical characteristics of an extended family with novel NPR2 mutations. The family was an Ashkenazi Jewish family with no history of consanguinity and included two sisters with compound heterozygous NPR2 missense mutations causing acromesomelic dysplasia Mar...

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...

J Clin Endocrinol Metab. 2021;106:1742–1749. doi: 10.1210/clinem/dgab084. PMID: 33570564This study aimed to assess the frequency of genetic collagenopathies in children with familial short stature (FSS), describing the phenotype and reporting the response to rhGH treatment after 1 and 3 years and at adult height.Collagen types II, IX, X, and XI are synthesized by...

PrefaceThe skeletal research field continues to develop rapidly and has produced several seminal findings in the last year including advances in the treatment of rare skeletal disorders, and an even deeper understanding into the molecular mechanisms that control skeletal development, endochondral bone formation, mineralization of skeletal tissues and skeletal biology. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly a...

Lancet. 2020 Sep 5;396(10252):684–692. Abstract: https://pubmed.ncbi.nlm.nih.gov/32891212/In brief: Activating mutations in FGFR3 inhibit endochondral ossification in achondroplasia resulting in disproportionate extreme short stature. In this randomised, double-blind, phase 3, placebo-controlled trial, once-daily subcutaneous treatment with vosoritide, a C-type natriuretic pep...

Sci Rep. 2020 Dec 1;10(1):20915 Abstract: https://pubmed.ncbi.nlm.nih.gov/33262386/In brief: Inhibition of excessive FGFR3 signalling constitutes the key mechanism of pharmacological treatments in achondroplasia. In this pharmacokinetic and pharmacodynamic animal study, the FGFR inhibitor ASP5878 with potential oral application mode revealed beneficial effects on skeletal growth in...

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz260. Abstract: https://pubmed.ncbi.nlm.nih.gov/31821448/In brief: In large kindred including five hypophosphatemic rickets (HR) patients with a pattern of autosomal dominant inheritance, a novel c.979–96 T>A variant in the SGK3 gene segregated perfectly with the phenotype, i.e. present in all 5 patients and in none of ...

J Pediatr Surg. 2020 Jul;55(7):1260–1264 Abstract: https://pubmed.ncbi.nlm.nih.gov/31383578/In brief: Hypoparathyroidism is a common complication after total thyroidectomy and has been reported to occur in 30% to 60% of adult patients. The current study of 106 pediatric patients undergoing total thyroidectomy between 1998–2018 reports that hypoparathyroidism was common, w...