Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome

Background: Patients with mutations or deletions of the Short Stature Homeobox-containing(SHOX) gene have variable degrees of growth impairment, with or without mesomelic skeletal dysplasia. If untreated, short patients with SHOX deficiency remain short in adulthood. Growth hormone (GH) treatment improves short-term linear growth; however, there are no data on GH treatment effects on final height. Patients: In a retrospective study, we assessed the relative effects of GH on final height gain in patients with SHOX deficiency (n = 14; 12 females) and Turner syndrome (TS) (n = 158). Patients were included if they fulfilled the following criteria: genetically-confirmed SHOX deficiency or TS, baseline height SDS <1.5, GH treatment started at Tanner stage ≤2, duration of GH treatment >2 years, and final height attained. Results: Both groups of patients were short at baseline (height SDS [mean ± SD]: SHOX deficiency, -3.3 ± 0.9; TS, -2.9 ± 0.8). Height SDS gain from baseline to final height was significant for each patient group (SHOX deficiency, 1.1 ± 0.7; TS, 1.2 ± 0.8; p < 0.001); however, it was not significantly different between groups (p = 0.708). Conclusions: Patients with SHOX deficiency receive similar final height benefit from GH treatment to those with TS.