ESPE Abstracts

Background: Fibrous dysplasia (FD) is rare disease that affects skeletal system characterized mostly by abnormal bone formation. The newly formed disorganized mass includes fibrous tissue with poorly organized immature trabeculae. FD is a highly incapacitating condition where fractures, deformities and consecutive functional impairment could occur as mono, olygo or polyostotic form. Aside from predominantly asymmetric skeletal involvement, extra-skeletal manif...

Key words: Primary hypoaldosteronism, aldosterone synthase deficiency, salt-wasting, failure to thrive, CYP11B2 gene mutationIntroduction: Aldosterone synthase deficiency is a rare autosomal recessive inherited disorder. The patients carry mutations in the CYP11B2 gene. It is primary hypoaldosteronism presented in early childhood with electrolyte abnormalities (hyponatremia, hyperkalemia, and metabolic ...