SHOX GENE DEFICIENCY AS THE UNDERLYING CAUSE OF SHORT STATURE

Key words: SHOX gene, Short stature, Léri-Weill dyschondrosteosis, Turner syndrome, GH therapy

SHOX gene (Short Stature Homeobox-containing gene) seems to play an important role in the growth process. Indeed, patients with mutations or deletions of this gene present with variable degrees of stature deficiency that in the most serious cases is accompanied by mesomelic skeletal dysplasia. This characteristic variability is due to the fact that SHOX gene is localized on both sexual chromosomes in a particular area defined as pseudoautosomal region or PAR1 and in normal condition both genes must be present and active. Clinical conditions that fall within SHOX gene alterations include Langer mesomelic dwarfism, Léri-Weill dyschondrosteosis and Turner syndrome. Studies on the SHOX gene alterations have been recently carried out also in patients with idiopathic short stature and the importance of analysing these subjects carefully in order to identify those who might benefit from a growth hormone treatment has been underlined. Indeed, it seems that the GH therapy improves the statures of patients with SHOX gene deficiency, with a significant increase similar to the one obtained in the patients with Turner syndrome.