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.

Keywords: growth hormone; growth hormone deficiency; growth hormone treatment; growth rate; height; turner syndrome.

© 2025 John Wiley & Sons Ltd.

背景： 特纳综合征（TS）是一种染色体异常疾病，特征为特定的临床表现，包括心脏和肾脏畸形以及身材矮小。对于这些患者，目前推荐使用重组生长激素（GH）治疗，并显示出对生长速度有正面影响且耐受性良好。然而，据报道与因其他原因接受GH治疗的女孩相比，TS女孩在身高改善和生长结局方面存在缺陷，这可能部分归因于生长激素缺乏症（GHD）。

目的： 本研究旨在比较TS女孩和GHD女孩三年内使用GH治疗的生长结局及安全性。

患者与方法： 该研究包括20名女孩，其中10名为TS诊断（4例完全单倍体X染色体，40%；6例部分单倍体（嵌合型）X染色体，60%），另外10名为孤立性特发性GHD诊断的女孩，年龄匹配（范围：4.17-10.42岁；中位数：6.8 ± 2.37），接受了至少三年的GH治疗（初始剂量：TS女孩为33.08 ± 4.31 μg/kg/天，GHD女孩为32.17 ± 2.51 μg/kg/天）。每六个月收集生长参数、血糖谱和IGF-1水平。

结果： 与基线相比，在接受GH治疗三年后（p ≤ 0.01），TS女孩和GHD女孩在身高、体重及生长速度方面均显著改善，这种改善在治疗六个月时已经显现（p ≤ 0.016）。值得注意的是，在两年内两组患者都表现出持续且显著的身高增长；与六个月内相比，十二个月内的治疗导致身高显著增加（p ≤ 0.008），而十二个月至二十四个月之间亦观察到类似趋势（p ≤ 0.031）；然而仅GHD女孩在三十六个月时较三十个月有明显的生长变化（p = 0.035）。比较两组研究对象，TS女孩在整个研究期间显示出较低的身高增长幅度，并且这些差异仅在接受治疗六个月和十二个月后达到统计学显著性（T6：+0.42 ± 0.23 SDS在TS vs +0.74 ± 0.38 SDS在GHD，p = 0.045；T12：+0.59 ± 0.34 vs +0.93 ± 0.39 SDS在GHD，p = 0.034）。就安全性而言，治疗总体上是可耐受的，最常见的不良事件为自身免疫性甲状腺炎（TS女孩两名，10%）；在整个治疗期间没有发生高血糖情况，而一名TS女孩（5%）和一名GHD女孩（5%）分别经历短暂的转氨酶升高与胆固醇升高。

结论： 总的来说，在特纳综合征女孩以及生长激素缺乏症女孩中进行GH治疗是一种有效且安全的方法，可以改善身高并提高生长速度，特别是在治疗的第一年效果尤为显著。此外，尽管GHD女孩在第一年的治疗中增长结果明显更好，但随着时间的推移，TS和GHD女孩之间并未观察到显著差异。

关键词： 生长激素；生长激素缺乏症；生长激素治疗；生长速度；身高；特纳综合征。