Efficacy and safety of GH treatment in Japanese pediatric patients with SHOX deficiency: an open-label extension study.

Abstract

We have previously published efficacy and safety data up to 24 mo of GH treatment (0.35 mg/kg/wk) for SHOX-related short stature in 19 Japanese pediatric patients before pubertal entry (jRCT2080223889). Here, we report similar efficacy and safety data up to 48 mo obtained by an extension study for the same 19 patients before and after pubertal entry. The height SDS for chronological age (CA) was increased during the study period in 18 of the 19 patients and exceeded -2.0 in 17 of the 19 patients at the latest visit. Height velocity obviously increased in the first year. Bone age (BA) progressed faster than CA, and ΔBA/ΔCA remained above 1.0 throughout the study period. Serum IGF-1 SDS increased during the first 12 mo and remained relatively stable thereafter. GH treatment was generally well-tolerated with no severe adverse events, although one patient showed a markedly high serum IGF-1 value which was coped with the reduction in GH dosage to 0.23 mg/kg/wk, and two patients manifested insulin resistance. While further studies are required to clarify the long-term efficacy and safety and adult height in GH-treated patients, the results argue for the beneficial effects of GH therapy in SHOX-related short stature.