Osteoporosis, Juvenile

Idiopathic osteoporosis of childhood or adolescence without blue sclerae and other stigmata of osteogenesis imperfecta is occasionally observed and sometimes more than one sib is affected. This condition, which may be a distinct recessively inherited entity, was delineated by Dent and Friedman (1965) and was reviewed by Dent (1969). The condition described by Chowers et al. (1962) may fall into this category, but the presence of amino aciduria and low serum uric acid makes a renal tubular defect of the Fanconi type likely. Marder et al. (1982) demonstrated low plasma calcitriol (1,25-dihydroxycholecalciferol) and normal serum calcifediol (25-hydroxycholecalciferol) in a 12-year-old girl with idiopathic juvenile osteoporosis. Deficiency of calcitonin has been suspected in cases of IJO, but exogenous calcitonin, in the experience of Jackson et al. (1988), had no benefit. Although IJO heals spontaneously in conjunction with sexual maturation, exogenous estrogen and androgen treatment has not been beneficial. Teotia et al. (1979) described 4 affected children and tabulated the features of 27 other reported patients.