Multicenter study on rhGH treatment in patients with SHOX-Deficiency.

Background: Mutations of the Short Stature Homeobox-containing (SHOX) gene on the pseudoautosomal region of the sex chromosomes(Xp22 and Yp11.3) are correlated with short stature. Patients with SHOX-Deficiency (SHOX-D) have different degrees of growthimpairment and generally remain short in adulthood. Turner Syndrome (TS) subjects present a SHOX haploinsufficiency that appears to be substantially responsible for their short stature. Considering the positive effects obtained with GH therapy in patients with TS, this treatment was also proposed in short stature due to isolated SHOX-D.Objective: The aim of our retrospective study was to analyze height gain and safety of rhGH therapy in patients with SHOX-D.Methods:We studied twelve patients (7 females, 5 males; age 8.7 ± 2.9 years; range 4.9-13.16 years)) with isolated SHOX-D geneticallyconfirmed, all with height SDS < 1.5, target height SDS -1.29 ± 0.65, and in 1 patient with SHOX-D combined with trichorhinophalangealsyndrome. All patients were treated for at least 1 year (2.49 ± 1.45; range 1-6.43) with rhGH (mean dosage of 0.026 ± 0.003mg/kg/day). Results:: GH treatment significantly improved Growth Velocity SDS (2.11 ± 1.42) and height SDS (from -2.03 ± 0.22 to -1.62 ± 0.45, p