ESPE Abstracts

Aim and Method: Achondroplasia is the most common form of short-limbed dwarfism, characterized by mutations in the FGFR3 gene. Vosoritide, a C-type natriuretic peptide analog, has shown promise in promoting linear growth in children with achondroplasia. This study aims to present the real-life experiences of using vosoritide in children diagnosed with achondroplasia.Method and Results: A prospective study was conducted o...

Background/aims: Pilocytic astrocytomas (PA) are low-grade neoplasms that affect the precortical visual pathway and are most commonly detected in children and adolescents, representing 2–5% of childhood central nervous system (CNS) tumours. Optic gliomas (OPGs) can occur sporadically, or in association with neurofibromatosis type 1 (NF1). We assessed the prevalence of endocrine dysfunction in children with PA and evaluated outcomes between subgroups of P...

Background: Human peroxisomal fatty acyl CoA oxidase 1, encoded by the ACOX1 gene, catalyzes the first and rate limiting step in the beta oxidation of straight chain fatty acids in the peroxisomes. Biallelic mutations in ACOX1 are associated with pseudo-neonatal adrenoleukodystrophy characterized by severe hypotonia, seizures, psychomotor retardation followed by neuroregression, and death in early childhood. To date, primary adrenal insuffici...