Short stature and Shox Gene haploinsufficiency

Introduction: SHOX gene (short stature homeobox gene) deficiency is one of the most frequent genetic causes of isolated or familial short stature, with highly variable clinical severity. Case-report: The authors describe a 14 year-old-girl, with short limbs and short stature. The wrist X-ray showed Madelung deformity. The molecular study showed deletion of the SHOX gene (FISH del (X) (Xp22.3Xp22.3) (SHOX). A very careful physical examination, including measurement of body proportions, is of extreme importance in the clinical evaluation of short stature. The Madelung deformity can only appear in the adolescence. Treatment with growth hormone can improve the final height. Discussion/Conclusions: The prevalence of short stature due to SHOX gene mutations among children with short stature appears to be similar to that of Growth Hormone deficiency or Turner syndrome. The authors’ intention is to draw attention to this clinical entity, since a timely diagnosis can have therapeutic implications.