生长激素（GH）剂量而非第3外显子缺失/全长生长激素受体多态性基因型，影响小于胎龄儿矮小儿童对两年生长激素治疗的生长反应。
Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age Children.
作者信息
Carrascosa Antonio, Audí Laura, Esteban Cristina, Fernández-Cancio Mónica, Andaluz Pilar, Gussinyé Miquel, Clemente María, Yeste Diego, Albisu María Angeles
机构信息
Department of Pediatrics, Institut de Recerca, Hospital Vall d'Hebron, Centre for Biomedical Research on Rare Diseases, Autonomous University, 08035, Barcelona, Spain.
出版信息
J Clin Endocrinol Metab. 2008 Jan;93(1):147-53. doi: 10.1210/jc.2007-1182. Epub 2007 Oct 9.
CONTEXT
In short small-for-gestational-age (SGA) patients, the exon 3-deleted(d3)/full-length (fl)-GHR polymorphism was associated with responsiveness to GH therapy (30-48 microg/kg.d); however, these results were not confirmed for higher GH doses (56-66 microg/kg.d). We hypothesized that higher doses would mask the lower dose differences.
OBJECTIVE
Our objective was to evaluate, in short SGA patients, 2-yr growth response to GH therapy (32.1 +/- 3.8 microg/kg.d) according to exon d3/fl-GHR genotypes.
SETTING
This was a 2-yr follow-up study.
PATIENTS
There was a total of 60 short SGA children (d3/d3 n = 8, d3/fl n = 23, and fl/fl n = 29). There were 11 children that entered puberty during the second follow-up year. Results were evaluated for all patients (group A1, n = 60, 7.7 +/- 2.7 yr) and for patients who remained prepubertal (group A2, n = 49, 6.9 +/- 2.2 yr).
MAIN OUTCOME MEASURES
Patients were followed by a single clinical team, and exon d3/fl-GHR genotypes were determined and analyzed in the same hospital.
RESULTS
In groups A1 and A2, growth velocity significantly (P < 0.0001) increased during the first and second years of therapy, as did height sd score (SDS). These increases were similar in each exon d3/fl-GHR genotype. Total 2-yr height gain (cm, SDS) did not differ statistically among genotypes: group A1, 15.0 +/- 2.0 cm and 1.15 +/- 0.45 SDS in d3/d3, 16.0 +/- 2.4 cm and 1.17 +/- 0.51 SDS in d3/fl, 16.1 +/- 2.4 cm and 1.15 +/- 0.53 SDS in fl/fl; and group A2, 15.4 +/- 2.0 cm and 1.03 +/- 0.42 SDS in d3/d3, 15.6 +/- 2.1 cm and 1.22 +/- 0.51 in d3/fl, and 16.2 +/- 2.6 cm and 1.21 +/- 0.56 SDS in fl/fl.
CONCLUSIONS
These results did not confirm our hypothesis and show that, in short SGA children, 2-yr growth response to GH therapy 32.1 +/- 3.8 microg/kg.d was similar for each exon d3/fl-GHR genotype carried, as occurred in our previous study using 66 microkg.d.
背景
在短小的小于胎龄儿（SGA）患者中，外显子3缺失（d3）/全长（fl）-生长激素受体（GHR）多态性与生长激素（GH）治疗（30 - 48微克/千克·天）的反应性相关；然而，对于更高的GH剂量（56 - 66微克/千克·天），这些结果未得到证实。我们推测更高剂量会掩盖较低剂量的差异。
目的
我们的目的是在短小SGA患者中，根据外显子d3/fl - GHR基因型评估GH治疗（32.1±3.8微克/千克·天）的2年生长反应。
设置
这是一项为期2年的随访研究。
患者
共有60名短小SGA儿童（d3/d3 n = 8，d3/fl n = 23，fl/fl n = 29）。在第二次随访年中有11名儿童进入青春期。对所有患者（A1组，n = 60，7.7±2.7岁）和仍处于青春期前的患者（A2组，n = 49，6.9±2.2岁）的结果进行了评估。
主要观察指标
由单一临床团队对患者进行随访，并在同一医院确定和分析外显子d3/fl - GHR基因型。
结果
在A1组和A2组中，治疗的第一年和第二年生长速度显著增加（P < 0.0001），身高标准差评分（SDS）也是如此。这些增加在每个外显子d3/fl - GHR基因型中相似。2年总身高增加（厘米，SDS）在各基因型之间无统计学差异：A1组，d3/d3为15.0±2.0厘米和1.15±0.45 SDS，d3/fl为16.0±2.4厘米和1.17±0.51 SDS，fl/fl为16.1±2.4厘米和1.15±0.53 SDS；A2组，d3/d3为15.4±2.0厘米和1.03±0.42 SDS，d3/fl为15.6±2.1厘米和1.22±0.51，fl/fl为16.2±2.6厘米和1.21±0.56 SDS。
结论
这些结果未证实我们的假设，并表明，在短小SGA儿童中，对于所携带的每个外显子d3/fl - GHR基因型，GH治疗32.1±3.8微克/千克·天的2年生长反应相似，这与我们之前使用66微克/千克·天的研究结果相同。
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