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生长激素缺乏症、特发性身材矮小、SHOX基因突变、小于胎龄儿及特纳综合征患儿的生长激素治疗

[Growth Hormone treatment in children with Growth Hormone deficiency, idiopathic short stature, SHOX gene mutation, small for gestational age and Turner syndrome].

作者信息

Griffero González Mariana, González Navarrete Diego, Tolosa Navarro Francisco, López Cuevas Patricia, Rodríguez Convertino Fernando, Román Reyes Rossana

机构信息

Hospital Luis Calvo Mackenna, Santiago, Chile.

Universidad de Santiago de Chile, Santiago, Chile.

出版信息

Andes Pediatr. 2024 Apr;95(2):151-158. doi: 10.32641/andespediatr.v95i2.4941. Epub 2024 Apr 13.

Abstract

UNLABELLED

Growth hormone (GH) is effective in improving height in several conditions.

OBJECTIVE

To describe the evolution of a group of children who received GH in a tertiary center between 2012-2022.

PATIENTS AND METHOD

Descriptive, retrospective study. We analyzed the impact on height after GH use with Z-score according to etiology, age at onset and bone age. Patients under 15 years old at baseline and receiving GH for at least 12 months, with diagnoses of GH deficiency (GHD), idiopathic short stature (ISS), small for gestational age (SGA), SHOX Haploinsufficiency (SHOX) and Turner syndrome (TS) were included. Height was expressed as Z-score for age and sex, according to NCHS curves.

RESULTS

145 children received GH. Sixty patients were excluded due to irregular administration, incomplete data, less than 12 months of GH, change of hospital, and associated comorbidities. Seventy-three patients were analyzed, 23 GHD, 15 ISS, 20 SGA, 9 SHOX and 6 TS patients. Significant improvement in height (Z-score for age and sex) was observed in SGA (1.4 ± 0.8 gain; p < 0.001), GHD (1.1 ± 1.0; p < 0.001), ISS (1.1 ± 0.8; p < 0.001) and SHOX (0.8 ± 0.7; p = 0.007) patients. In TS, a non-statistically significant improvement was observed (0.7 ± 0.8; p = 0.085). In GHD, onset before 3 years showed a gain of 1.9 ± 1.1, vs 0.7 ± 0.6 (p = 0.083) and in ISS onset with bone age less than 9 years increased it by 1.7 ± 0.5 vs 0.5 ± 0.5 (p < 0.001).

ADVERSE EVENTS

27/73 (37%) headache, 18/73 (24%) lower extremity pain, 1/73 (1.5%) dizziness, 1/73 (1.5%) scoliosis, 1/73 (1.5%) epiphysiolysis and 1/73 (1.5%) craniopharyngioma recurrence.

CONCLUSIONS

Children with GHD, ISS, SHOX mutation and SGA significantly improved their height, highlighting in GHD and ISS the importance of early treatment. Treatment was well tolerated in the 5 groups analyzed.

摘要

未标注

生长激素(GH)在多种情况下对改善身高有效。

目的

描述2012年至2022年间在一家三级中心接受GH治疗的一组儿童的情况演变。

患者与方法

描述性回顾性研究。我们根据病因、发病年龄和骨龄,用Z评分分析了GH使用后对身高的影响。纳入基线年龄在15岁以下、接受GH治疗至少12个月、诊断为生长激素缺乏症(GHD)、特发性矮小症(ISS)、小于胎龄儿(SGA)、SHOX单倍体不足(SHOX)和特纳综合征(TS)的患者。根据美国国家卫生统计中心(NCHS)曲线,身高以年龄和性别的Z评分表示。

结果

145名儿童接受了GH治疗。60名患者因用药不规律、数据不完整、GH治疗时间不足12个月、转院及合并其他疾病而被排除。对73名患者进行了分析,其中23名GHD患者、15名ISS患者、20名SGA患者、9名SHOX患者和6名TS患者。SGA患者(身高增加1.4±0.8;p<0.001)、GHD患者(1.1±1.0;p<0.001)、ISS患者(1.1±0.8;p<0.001)和SHOX患者(0.8±0.7;p=0.007)的身高有显著改善。TS患者身高有改善,但无统计学意义(0.7±0.8;p=0.085)。在GHD患者中,3岁前发病者身高增加1.9±1.1,而3岁后发病者为0.7±0.6(p=0.083);在ISS患者中,骨龄小于9岁发病者身高增加1.7±0.5,而骨龄大于9岁发病者为0.5±0.5(p<0.001)。

不良事件

73例中有27例(37%)头痛,18例(24%)下肢疼痛,1例(1.5%)头晕,1例(1.5%)脊柱侧弯,1例(1.5%)骨骺分离,1例(1.5%)颅咽管瘤复发。

结论

GHD、ISS、SHOX突变和SGA儿童的身高显著改善,突出了GHD和ISS早期治疗的重要性。在所分析的5组中,治疗耐受性良好。

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