ESPE Abstracts

Insulin-induced ovarian hyperstimulation and hyperandrogenization can cause virilization in children and adults. It rarely occurs in children and adolescents but when it does, it is usually caused by congenital adrenal hyperplasia or virilizing tumors. In very rare cases severe hyperandrogenism is caused by severe insulin resistance, either due to germline mutations in genes encoding the insulin receptor or proteins in downstream insulin signaling or due to insulin receptor an...

Background: Hereditary hypophosphatemic rickets (HR) is a group of rare diseases with disordered phosphate metabolism. The Norwegian cohort of HR patients has not previously been described.Objective and hypotheses: The aim of the study was to characterize the genotype, phenotype, and complications to treatment in a national cohort of Norwegian children HR.Method: For assessment of genotype, Sanger sequencing of PHEX, FGF23, DMP...