摘要：目的 分析病因不明性发育异常(DSD)患儿的类型分布、临床特征及身高情况.方法 选取病因不明DSD患儿,采集临床资料,检查骨龄、染色体,行性腺、盆腔及腹部B超检查,HCG试验,评估DSD的临床类型,评价身高发育状况.结果 153例病因不明DSD患儿纳入分析,其中初诊时社会性别男128例,女25例,平均年龄(4.6±4.2)岁(42 d至16岁10个月),3岁前就诊者87例(56.9％).有DSD家族史者15例(9.8％).母亲孕期使用孕酮类保胎药19例(12.4％).①134例行染色体检查,其中46,XY DSD 121例(90.3％),46,XX DSD 3例(2.2％),性染色体异常DSD 10例(7.5％).121例46,XY DSD中,主要为小阴茎合并尿道下裂39例(32.2％),小阴茎合并睾丸异常19例(15.7％),单纯小阴茎18例(14.9％).②46,XY DSD患儿中身高小于2005年中国2～18岁儿童青少年身高百分位数值表(简称身高数值表)P25者46例(38.0％),与正常儿童比较差异有统计学意义(P=0.039)；身高小于身高数值表P50者76例(62.8％).10例性染色体异常DSD患儿中,身高小于身高数值表P25者5例.③卵巢/睾丸发育异常(双向性腺)DSD患儿8例,其中46,XY 3例,46,XX 2例,嵌合染色体3例.身高小于身高数值表P25和P50者分别有5例(62.5％)和7例(87.5％).④125例进行了HCG激发试验,其中HCG标准试验反应良好78例,HCG延长试验反应良好14例,HCG试验反应不良33例,3组身高小于身高数值表P50者分别为31例(39.7％)、11例(78.6％)和27例(81.8％),差异有统计学意义(P=0.000).结论 本组病因不明DSD患儿以46,XY DSD为主.46,XY DSD患儿以各类小阴茎表现最多见.DSD家族史和母孕期服用保胎药可能是DSD的原因之一.DSD患儿身高小于身高数值表P25及P50的比例高于正常儿童.DSD患儿的身高与睾丸发育状况、HCG反应有明显关系,提示DSD患儿的身高受损与睾酮产生能力有关.%Objective To analyze the clinical characteristics and body height of 153 pediatric patients with disorders of sex development (DSD) without known causes. Methods Clinical data of DSD patients, including age, bone age, gender and family history were collected. Categories were definited and body height, body weight, penis length and testis volume were measured and deformation was described. The levels of sex hormones were determined. HCG test, B-ultrasonography and chromosomes examination were performed. The growth profile of DSD patients and the relevant factors were analyzed. Results A total of 153 DSD patients were enrolled including 128 social sex males and 25 females aged from 42 days tol6 years and 10 months (4. 6 ±4. 2 years). There were 121(90.3%) with 46,XY DSD, 3(2.2%) 46,XX DSD and 10(7.5%) chromosome DSD. Among 46,XY DSD, 39 cases(32. 2%) were diagnosed as hypospadias combined with micropenis, 19(15. 7%) were micropenis with testis abnormality and 18 cases( 14. 9% ) were simple micropenis. 15 (9. 8% ) cases had DSD family histories and 19 (12. 4% ) patients' mother had taken progesterone in early pregnant stage to avoid threatened abortion. The proportion of body height shorter than 25 percentile and 50 percentile was higher than normal population, P = 0. 039 and 0. 056 respectively. 125/153 DSD were performed HCG test, height > P50 was 60. 3% among 78 who had normal testosterone response, while it was only 18. 2% height > P50 among 33 cases with abnormal testosterone response (P =0.000). Conclusions The major patients of unknown cause DSD were 46,XY DSD, the most of them were hypospadias combined with micropenis, and followed by micropenis. Some patients had DSD family histories and some patients whose mothers had threatened abortion and took progesterone during pregnancy. Patients with DSD mayhave both disorders of sex development and short statures. Most patients with DSD were shorter than normal population and testicular development was related to short statures.