Searchable abstracts of presentations at key conferences in endocrinology

ea0016p97 | Bone and calcium | ECE2008

A new form of hereditary low-turnover osteoporosis in a 3-generation Finnish family

Laine Christine , Saarinen Anne , Laine Tero , Makitie Outi

Juvenile primary osteoporosis, unless diagnosed as osteogenesis imperfecta, has previously been considered a sporadic and self-limiting disease. New genetic findings, including osteoporosis-causing mutations in the LDL-receptor related protein (LRP) 5 and LRP6 genes, challenge this view. The pathogenesis of juvenile osteoporosis still remains largely unknown. We describe findings in a three-generation pedigree with a new form of autosomal dominant osteoporosis.<p class="ab...