ESPE Yearbook of Paediatric Endocrinology

In Brief: This phase 1 study in healthy adults assessed the safety and feasibility of transcon-CNP, a novel prodrug that releases native C-type natriuretic peptide (CNP). The novel drug was well tolerated and CNP remained in systemic circulation for >7 days following a single dose.Commentary: Achondroplasia is caused by autosomal activating mutation in the fibroblast growth factor receptor 3 gene (FGFR3) resulting in constitutive receptor ac...

To read the full abstract: Pediatr Diabetes. 2018 19(5):1007-1013Severe hypoglycemia is one of the most threatening events in management of diabetes for parents and relatives. Although parents and patients are taught about the management in the acute situation, many are unable to use injectable glucagon. For moderate hypoglycemia, injectable glucagon seems to be no alternative for most caregivers. N...

Brief Summary: This double-blind, placebo-controlled international trial, randomized overweight and obese adults with T2D to either once-weekly subcutaneous Tirzepatide (10 mg or 15 mg) or placebo for 72 weeks. Tirzepatide led to weight reductions of -9.6% with the 10 mg dose and -11.6% with the 15 mg dose, compared to placebo. From a mean baseline 8.0%, HbA1c reduced by –2·1% with both the 10 mg, and 15 mg dose of triszepatied compared to 0·5% reduction on plac...

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...

Brief Summary: This study performed long-read genome sequencing (lr-GS) using PacBio HiFi on several members of a four-generation family presenting with autosomal dominant (AD) 46,XY differences of sexual development (DSD). This family had undergone a lengthy molecular diagnostic process with no conclusive results. Lr-GS offers enhanced mapping capabilities in highly repetitive, homologous, and low-complexity regions, providing better assessment of structural variations and co...

Brief summary: In this in vivo study, Xia et al. demonstrate that AAV-mediated gene therapy recovers testosterone levels, restarts sexual development, restores spermatogenesis, and produces fertile offspring in a mouse model of Leydig cell failure (LCF).A null mutation in the gene encoding luteinizing hormone/choriogonadotrophin receptor (Lhcgr) causes a hereditary LCF in mice which is characterized by a reduction in testosterone levels...