Eli Lilly and Company, Werner-Reimers-Strasse 2-4, D-61352 Bad Homburg, Germany.
J Clin Endocrinol Metab. 2013 Aug;98(8):E1383-92. doi: 10.1210/jc.2013-1222. Epub 2013 May 29.
Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency.
Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome.
A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods).
Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension.
Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure.
Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score.
GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.
矮小同源盒基因（SHOX）缺乏和特纳综合征的生长障碍具有相似的病因。由于 GH 治疗对特纳综合征患者的身高有明确的治疗效果，我们假设 GH 治疗也会刺激 SHOX 缺乏症患者的生长。
我们的目的是评估 GH 治疗 SHOX 缺乏症矮小患者的长期疗效，并比较 SHOX 缺乏症和特纳综合征患者对最终（成人）身高（FH）的影响。
这是一项前瞻性、多国、开放标签、随机 3 臂研究，包括 2 年的对照期和随后的 FH 延长期。治疗组为 1）SHOX-D-C/GH（对照期未治疗，延长期 GH 治疗）、2）SHOX-D-GH/GH 和 3）Turner-GH/GH（两个研究期间均 GH 治疗）。
参与延长期研究的遗传证实的 SHOX 缺乏症（n = 49）或特纳综合征（n = 24）的矮小青春期前患者。
根据研究臂的不同，患者接受每日皮下注射 0.05mg/kg 重组人生长激素，从研究开始或延长开始直至达到 FH 或研究结束。
从开始 GH 治疗到 FH 的身高标准差评分增加在合并 SHOX 缺乏症组（n = 28，1.34 ± 0.18[最小二乘均数 ± SE]）和特纳组（n = 19，1.32 ± 0.22）之间相似。在这个 FH 人群中，57%的 SHOX 缺乏症患者和 32%的特纳综合征患者达到 FH 大于-2SD 评分。
GH 治疗 SHOX 缺乏症矮小儿童显示出与特纳综合征女孩相似的长期疗效。
