Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR).

CONTEXT: Twenty-five to 40% of patients with well-controlled X-linked hypophosphatemic rickets (XLHR) have a final height under -2 SDS. Previous studies have shown that recombinant human growth hormone (rhGH) treatment improves linear growth in short children with XLHR.

OBJECTIVE

We studied the effectiveness of rhGH treatment in children with XLHR in a larger cohort.

DESIGN

Monocentric, prospective, non-randomized trial.

SETTING

University hospital in France.

PATIENTS: 19 patients with XLHR and a mutation in the PHEX gene. Six male and 6 female Tanner stage 1 patients (age 6.1±2.4years) and 4 male and 3 female Tanner stage 2 patients (age 13.1±1years). At inclusion, height SDS was -2.35±0.8 SDS and growth velocity was -1.12±1.2 SDS.

INTERVENTION: 2years of treatment with 67mcg/kg/day of rhGH at initiation. Every three months rhGH dosage was adjusted using an IGF-1 dosing protocol.

MAIN OUTCOME MEASURES: Comparison in change from baseline to year 2 in height and growth velocity.

RESULTS

Height SDS improved from -2.35±0.8 SDS at baseline, to -1.62±0.8 SDS (p=0.01) after one and to -1.2±1 SDS (p=0.04) after two years of rhGH treatment. There was a strong correlation (r2=0.6104, p<0.0001) between the age of onset of rhGH treatment and the number of cm gained over the study period. Pre-pubertal patients height SDS improved compared to baseline height SDS after one (-1.5±0.7, p<0.03) and two (-0.96±1, p<0.03) years of rhGH treatment. In pubertal patients there was no significant improvement in height SDS after one year (-1.75±1) and after two years (-1.7±0.8) of rhGH treatment.

CONCLUSION

Two-year rhGH treatment is effective to treat short stature in XLHR children. Pre-pubertal children responded better to rhGH.

CLINICAL TRIAL REGISTRATION NUMBER: NCT02720770.