Abstract
Idiopathic juvenile osteoporosis is a rare condition with an estimated incidence of 1 in 100,000. It characteristically presents in early puberty with back pain, difficulty walking and vertebral compression fractures. The precise aetiology is unclear although there is evidence of reduced bone formation on histological examination. Spontaneous resolution has been reported in some individuals while others progress to have a severe disabling condition with a potential loss of ambulation. A precise genetic cause for this condition has not yet been identified although some heterozygous mutations have been identified in the gene for low-density lipoprotein receptor-related protein LRP5.
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