ESPE Abstracts

Background: Apparent mineralocorticoid excess (AME) is a rare congenital autosomal recessive disorder resulting from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11-β-hydroxysteroid dehydrogenase type 2, inactivating circulating cortisol to the less-active metabolite cortisone. Less than 100 cases of AME have been reported in the literature so far. Affected individuals have elevated renal concentrations of cortisol, which can cross-react and activate...

Background: Cyclic treatment with bisphosphonates (BP) is now considered a ‘standard care’ for children with osteogenesis imperfecta (OI). Vitamin D is a necessary nutrient for bone health for all children but especially for those with OI. In the literature few studies have considered the relationship between bone mineral density, vitamin D and pubertal stage in children treated with BP for OI.Objective and hypotheses: The purpose of this study...