Growth hormone deficiency (GHD) can lead to growth and development disorders in children. Its clinical features are complex and diverse, and diagnosis and treatment are difficult. Recombinant human growth hormone (rhGH) is the first - choice drug for treating GHD, but there are significant individual differences in treatment efficacy, and the influencing factors are not yet clear.

Based on a ten-year longitudinal cohort study, to investigate the clinical characteristics of children with GHD and the efficacy of rhGH therapy.

A total of 1 050 children who were hospitalized in the Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University from 2013 to 2022 and diagnosed with GHD were selected as the study subjects. The general clinical characteristics of children with GHD and the treatment effects of rhGH were analyzed. Multivariate logistic regression analyzed factors affecting first-year rhGH treatment effects.

Among the 1 050 children with GHD, there were 737 (70.19%) boys and 313 (29.81%) girls. The average age was (10.3±3.5) years, the average bone age was (8.4±3.6) years, the average height standard deviation score (SDS) was (-2.64±0.63), the median insulin-like growth factor 1 (IGF-1) SDS was -1.06 (-1.79 to -0.28), the median peak growth hormone level was 5.51 (3.64 to 7.28) ng/mL, and most (72.76%, 764 cases) of the children were prepubertal. Compared with children who had not received rhGH treatment, children who received rhGH treatment had a younger average age, a higher average height SDS, and a lower average genetic target height, and the differences were statistically significant (P<0.05). rhGH treatment can significantly improve the height SDS in children with GHD. After 0.5 years of rhGH treatment, there was a significant improvement in the height SDS of the children (β=0.34, 95%CI=0.29 to 0.39, P<0.001). As the treatment duration increased, the maximum improvement was achieved after 8 years of rhGH treatment (β=2.28, 95%CI=1.84 to 2.72, P<0.001). Age (OR=0.84, 95%CI=0.78 to 0.91, P<0.001), bone age (OR=0.87, 95%CI=0.81 to 0.94, P<0.001), height SDS (OR=0.24, 95%CI=0.12 to 0.49, P<0.001), insulin - like growth factor binding protein 3 (OR=0.73, 95%CI=0.60 to 0.89, P<0.001), and peak growth hormone level (OR=0.98, 95%CI=0.95 to 0.99, P=0.004) had a negative impact on the efficacy of rhGH treatment. Genetic target height SDS (OR=1.22, 95%CI=1.02 to 1.46, P=0.032), genetic target height SDS - height SDS (OR=1.34, 95%CI=1.13 to 1.59, P=0.001), and IGF-1 (OR=1.01, 95%CI=1.01 to 1.22, P=0.019) had a positive impact on the efficacy of rhGH treatment.

This study revealed that children with GHD exhibited delayed bone age and low levels of IGF-1. rhGH significantly improves height in children with GHD, with more favorable outcomes observed in longer the treatment duration, younger the chronological age and bone age, the lower the baseline height SDS, the lower the insulin-like growth factor binding protein 3 level with lower peak growth hormone levels and higher genetic target heights. Early diagnosis, timely intervention, and appropriate treatment are essential for children with severe GHD to enhance their height and overall quality of life.

生长激素缺乏症（GHD）会导致儿童生长发育障碍，其临床特征复杂多样且诊断治疗困难。重组人生长激素（rhGH）是治疗GHD的首选药物，但疗效反应存在显著的个体差异，其影响因素尚不明确。

基于一项十年纵向队列研究，探讨GHD患儿的临床特征及其rhGH治疗效果。

选取2013—2022年于济宁医学院附属医院内分泌遗传代谢科住院并诊断为GHD的患儿1 050例为研究对象，分析GHD患儿一般临床特征及rhGH治疗效果，应用多元Logistic回归分析探讨第1年rhGH治疗效果的影响因素。

1 050例GHD患儿中男性患儿737例（70.19%）、女性患儿313例（29.81%），平均年龄（10.3±3.5）岁，平均骨龄（8.4±3.6）岁，平均身高标准差积分（SDS）为（-2.64±0.63），中位胰岛素样生长因子1（IGF-1）SDS为-1.06（-1.79，-0.28），中位生长激素峰值为5.51（3.64，7.28）ng/mL，大部分（72.76%，764例）患儿处于青春期前。与rhGH未治疗患儿相比，rhGH治疗患儿的平均年龄更小，平均身高SDS更大，平均遗传靶身高更低（P<0.05）。经过0.5年rhGH治疗后，GHD患儿身高SDS存在显著改善（β=0.34，95%CI=0.29~0.39，P<0.001），随着治疗时长增加，rhGH治疗8年时达最大改善（β=2.28，95%CI=1.84~2.72，P<0.001）。年龄（OR=0.84，95%CI=0.78~0.91，P<0.001）、骨龄（OR=0.87，95%CI=0.81~0.94，P<0.001）、身高SDS（OR=0.24，95%CI=0.12~0.49，P<0.001）、胰岛素样生长因子结合蛋白3（OR=0.73，95%CI=0.60~0.89，P<0.001）以及生长激素峰值（OR=0.98，95%CI=0.95~0.99，P=0.004）负向影响rhGH治疗效果；遗传靶身高SDS（OR=1.22，95%CI=1.02~1.46，P=0.032）、遗传靶身高SDS-身高SDS（OR=1.34，95%CI=1.13~1.59，P=0.001）以及IGF-1（OR=1.01，95%CI=1.01~1.22，P=0.019）正向影响rhGH治疗效果。

本研究显示GHD患儿骨龄延迟，IGF-1水平低。rhGH治疗可显著改善GHD患儿身高，治疗时间越长、年龄和骨龄越小、身高SDS越低、胰岛素样生长因子结合蛋白3水平越低、生长激素峰值越低、遗传靶身高越高，身高SDS改善越明显。因此，对于身材严重矮小的GHD患儿，特别是重度GHD患儿应早期诊断、早期干预、足够疗程治疗，以改善其身高，提高其生活质量。