JCEM：SHOX缺乏患者生长激素治疗有效

矮小同源盒基因（SHOX）缺失和特纳综合征的生长障碍有相似的病因。因为在特纳综合征患者生长激素（GH）治疗对身高有确定的疗效，假释生长激素治疗在SHOX缺乏患者也可以刺激生长。为了评估在SHOX缺乏的身材矮小患者，生长激素治疗的长期疗效，并比较生长激素对SHOX缺乏患者和特纳综合征患者最终（成年）身高（FH）的影响。来自美国宾夕法尼亚州托马斯杰弗逊大学的Werner F Blum教授及其团队进行了一项研究，该研究发现在SHOX缺乏的身材矮小儿童，生长激素治疗显示出与在特纳综合征女孩中相似的长期疗效。该研究结果在线发表在2013年5月29日的《临床内分泌代谢杂志》（The journal of clinical endocrinology & metabolism）上。

该研究是一项前瞻性、跨国、开放性、随机3个研究队列的研究，包括2年控制期和以后到FH的扩展期。治疗组分为：（ⅰ）SHOX–D–C/GH(在控制期不治疗，在扩展期生长激素治疗)；（ⅱ）SHOX–D–GH/GH；以及（ⅲ）特纳–GH/GH(两个研究期间都使用生长激素治疗)。受试者包括遗传学确诊的SHOX缺乏的身材矮小的青春期前患者（49例）或参与扩展期的特纳综合征患者（24例）。根据研究目的，患者从研究起始或扩展期起始时接受重组人生长激素每日0.05mg/kg皮下注射，直到达到FH或研究结束。

该研究结果表明，在联合SHOX缺乏组（28例，1.34±0.18[最小二乘法，均数±SE]）和特纳组（19例，1.32±0.22）之间，从起始生长激素治疗至FH得出的身高标准差积分（SDS）相似。在这个FH人群中，57%的SHOX缺乏患者贺32%的特纳综合征患者的FH大于-2SDS。

该研究发现，在SHOX缺乏的身材矮小儿童，生长激素治疗显示出与在特纳综合征女孩中相似的长期疗效。

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.
Context
Growth impairment in 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.
Objective
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.
Design & Setting
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: (i) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), (ii) SHOX-D-GH/GH, and (iii) Turner-GH/GH (GH-treated during both study periods).
Patients
Short-statured pre-pubertal patients with genetically confirmed SHOX deficiency (N=49) or Turner syndrome (N=24) who participated in the extension.Intervention:Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg rhGH from start of the study or start of the extension until attainment of FH or study closure.
Results
Height SD scores (SDS) 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 SDS.
Conclusions
GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.