Hypophosphataemic Rickets

Abstract
X-Linked hypophosphataemic rickets (XLH) is frequently associated with short stature even when conventional treatment (1,25-dihydroxyvitamin D3 or 1α-hydroxyvitamin D3 plus inorganic phosphate salts) is administered for a long time. The pathogenesis of growth retardation is probably multifactorial. Affected patients usually show normal growth hormone (GH) secretion. In some poorly growing XLH patients, long-term GH treatment associated with conventional therapy improves linear growth. GH treatment also increases phosphate retention but this effect is transient.

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