Angulo Moris A, Castro-Magana Mariano, Lamerson Michele, Arguello Raul, Accacha Siham, Khan Asjad
Division of Pediatrics and Medical Genetics, Department of Pediatrics, Winthrop-University Hospital, 120 Mineola Boulevard, Mineola, New York, USA.
Am J Med Genet A. 2007 Jul 1;143A(13):1456-61. doi: 10.1002/ajmg.a.31824.
Short stature is characteristic of children with Prader-Willi syndrome (PWS). While previous studies have demonstrated acceleration of linear height velocity with growth hormone (GH) treatment, the long-term benefit on final adult height (AH) has not been reported. The objective of this study was to compare AH attained in PWS subjects with and without GH treatment. We reviewed the records of 21 children (aged 8.3 +/- 2.7 years) with PWS and confirmed GH deficiency that attained AH after receiving human GH treatment (0.25 +/- 0.06 mg/kg/week) for a period of 7.9 +/- 1.7 years. A group of 39 non-GH-treated adults with matched initial height standard deviation score (SDS) at age 6.8 +/- 1.3 years was used as control. In the GH-treated group the mean initial height and AH-SDS was -1.9 +/- 1.7 and -0.3 +/- 1.2 respectively (P < 0.0001), whereas the mean initial and AH-SDS in the control group was -1.9 +/- 1.3 and -3.1 +/- 1 respectively (P < 0.0001). Scoliosis was seen in 43% and 39% in the GH-treated and control group respectively. Premature adrenarche (PA) was noticed in 57% of GH-treated group. Six subjects in the control group but none of the GH-treated subjects developed type 2 diabetes mellitus. Our data show that administration of GH to children with PWS restores linear growth and final AH without significant adverse effects other than PA. Further studies will be necessary to determine related morbidity and mortality in individuals with PWS that reached final AH with or without GH treatment.
身材矮小是普拉德-威利综合征（PWS）患儿的特征。虽然先前的研究表明生长激素（GH）治疗可加速线性身高增长速度，但对最终成人身高（AH）的长期益处尚未见报道。本研究的目的是比较接受和未接受GH治疗的PWS患者的AH。我们回顾了21例确诊为GH缺乏的PWS患儿（年龄8.3±2.7岁）的记录，这些患儿在接受人GH治疗（0.25±0.06mg/kg/周）7.9±1.7年后达到了AH。选取39例6.8±1.3岁时初始身高标准差评分（SDS）匹配的未接受GH治疗的成年人作为对照组。在接受GH治疗的组中，平均初始身高和AH-SDS分别为-1.9±1.7和-0.3±1.2（P<0.0001），而对照组的平均初始身高和AH-SDS分别为-1.9±1.3和-3.1±1（P<0.0001）。接受GH治疗组和对照组的脊柱侧弯发生率分别为43%和39%。接受GH治疗组中57%的患者出现性早熟（PA）。对照组中有6例患者患2型糖尿病，而接受GH治疗组中无1例发生。我们的数据表明，对PWS患儿给予GH可恢复线性生长和最终AH，除PA外无明显不良反应。有必要进一步研究以确定接受或未接受GH治疗达到最终AH的PWS患者的相关发病率和死亡率。
