Efficacy and Safety of Three‐Years Growth Hormone Treatment in Girls With Turner Syndrome and Growth Hormone Deficiency: A Case‐Control Study

ABSTRACT Background Turner syndrome (TS) is a chromosomal disorder characterized by specific clinical features, including cardiac and renal malformations and short stature. In these patients, recombinant growth hormone (GH) treatment is currently recommended, showing positive effects on growth rate, with good tolerability. However, height improvement and growth outcome in TS girls is reportedly impaired compared with other girls treated with GH due to other reason, including GH deficiency (GHD). Aim The aim of the current study was to compare the growth outcome and the safety of 3‐years GH treatment in TS and GHD girls. Patients & Methods The study included 20 girls, 10 with TS diagnosis (4 full complete monosomy of X chromosome, 40%; 6 partial monosomy (mosaic) of X chromosome, 60%) and 10 with isolated idiopathic GHD diagnosis, matched for age (range: 4.17–10.42 years; median: 6.8 ± 2.37) treated with GH (starting dosage: 33.08 ± 4.31 μg/kg/day in TS girls and 32.17 ± 2.51 μg/kg/day in GHD girls) for at least 36 months. Growth parameters, glycemic profile, and IGF‐1 levels were collected every 6 months. Results Compared to baseline, both TS and GHD children showed a significant improvement in height, weight, and growth rate after 3 years of treatment with GH ( p ≤ 0.01), already evident after 6 months of treatment ( p ≤ 0.016). Noteworthy, patients in both groups showed a constant, significant improvement in height until 24 months of treatment, as a significantly increase was observed both after 12 months compared to 6 months of treatment ( p ≤ 0.008) and after 24 months compared to 12 months of treatment ( p ≤ 0.031), whereas only GHD girls showed a significant increase after 36 months compared to 30 months of treatment ( p = 0.035). Comparing the two study groups, TS girls showed a lower height and a lower height increase throughout the study, but these differences reached statistical significance only after six and 12 months of treatment (T6: +0.42 ± 0.23 SDS in TS vs +0.74 ± 0.38 SDS in GHD, p = 0.045; T12: +0.59 ± 0.34 vs +0.93 ± 0.39 SDS in GHD, p = 0.034). Considering safety profile, treatment was well tolerated, as the most frequently reported adverse event was autoimmune thyroiditis (two TS girls, 10%); no hyperglycemia occurred throughout the treatment, whereas one TS girl (5%) and one GHD girl (5%) experience transient hypertransaminasemia and hypercholesterolemia, respectively. Conclusions In conclusion, GH treatment in both TS and GHD girls is an effective, safe treatment for short stature, improving both height and growth rate, especially during the first year of treatment. Moreover, although growth outcomes were significantly better in GHD girls in the first year of treatment, over time no significant differences were observed between TS and GHD girls.