Endocrine Abstracts

Background: Osteopetrosis is a rare chronic bone disease with high bone mineral densitiy due to impaired osteoclast activity or development. Genetic mutations result in severe infantile (autosomal recessive, incidence 1:200,000) and less severe adult forms (autosomal-dominant osteopetrosis/ADO). The incidence is estimated at 1:20,000 for noninfantile forms. In adults osteopetrosis is often asymptomatic with increased risk for bone fracture. Treatment is symptom-based (e.g. cal...