ESPE Abstracts

Background: SHOX deficiency is a frequent cause of short stature. GH therapy has been approved for growth promotion in individuals with SHOX mutations by FDA and EMEA.

Case report: Three patients with Leri-Weill syndrome (LWS) started GH therapy at different chronological ages (CA). Patient 1 started GH+LHRHa at the CA of 13.4 years, height 148.4 cm (−1.5 S.D.), Tanner stage 4, bone age (BA) 13 years. Target height (TH) 160.5 cm (−2.5 S.D.); mother affected by LWS 140.7 cm (−3.7 S.D.). After 3 months of therapy height was 151.7 (−1.3 S.D.), after 6 months height was 153.4 cm (−1.2 S.D.). After 1 year on LHRHa+GH, height 158 cm (−1 S.D.), BA 13.5 years. His sister, patient 2, started GH at the CA of 3.5 years, height 88 cm (−2.6 S.D.), BA 2.5 years. TH was 147.5 cm (−2.6 S.D.). After 3 months height was 90.7 cm (−2.3 S.D.) and after 6 months 92.8 cm (−2.2 S.D.). After 1 year, height was 98 cm (−1.7 S.D.), BA 3.5 years. Patient 3 was referred for short stature at the CA of 9.3 years, prepubertal, height 127.4 cm (−1.2 S.D.), BA 10.5 years. TH was 164.5 cm (−1.8 S.D.). His brother (18 years) with a final stature of 150 cm presented the same mutation. Patient started GH therapy at the CA of 9.5 years. After 6 months height was 136 cm (−0.5 S.D.). After 10 months height was 139 cm (25°–50°ct), Tanner stage 2, BA 12.5 years. Due to the accelerated skeletal maturation LHRHa was associated. After 6 months of combined therapy height was 143 cm (50°ct), but BA was 13 years.

Conclusion: GH therapy significantly improves growth rate and final height in children with SHOX deficiency. Height gain is higher in children who start GH therapy early, as confirmed by our data, despite the small size of our sample.