Idiopathic juvenile osteoporosis-a polygenic disorder?

Idiopathic juvenile osteoporosis (IJO) is a rare condition presenting with vertebral and metaphyseal fractures that affects otherwise healthy prepubertal children. Bone mineral density (BMD) measurements are very low. The primary problem appears to be deficient bone formation, with a failure to accrue bone normally during growth. The onset in childhood suggests IJO is a genetic disorder, and a number of reports indicate that some children carry heterozygous pathogenic variants in genes known to be associated with defective osteoblast function and low bone mass, most commonly

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© The Author(s) 2024. Published by Oxford University Press on behalf of the American Society for Bone and Mineral Research.

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None of the authors has any conflict of interest to declare.