雄性化评分系统在46,XY性别发育异常儿童性别分配中的作用探讨

Role of masculinization score in the assessment of 46,XY disorders of sex development

目的探讨雄性化评分系统在评估46,XY DSD患儿生殖系统结构畸形中的应用。方法本研究采用的雄性化评分系统包括外生殖器雄性化评分(external masculinization score,EMS)和内生殖器雄性化评分(internal masculinization score,IMS),分别对416例体检男童和106例46,XY DSD患儿进行评估,联合多学科专家会诊后对性别分配结果及其相关的临床表现进行分析。结果416例体检的男童中,415例EMS得分≥11分,1例小阴茎儿童EMS得分<11分。106例46,XY DSD患儿中,性别分配为男性者(男性组)81例,EMS中位得分为6(3,10)分,IMS中位得分为9(9,9)分;分配为女性者(女性组)25例,EMS中位得分为2(1.5,2)分,IMS中位得分为9(7,9)分。男女两组间EMS得分有统计学差异,男性组得分较高(P=0.000);两组间IMS得分无统计学差异。女性组子宫、尿生殖窦、阴道/前列腺囊的发生率和输精管缺失率明显高于男性组(P<0.05)。结论雄性化评分系统提供了一种相对客观、规范且简单易行的内外生殖管道雄性化程度评估方法,为性别分配及性别发育异常的进一步诊治提供了参考依据。

Objective To evaluate the role of masculinization score in the assessment of 46,XY disorders of sex development(DSD).Methods With a specially devised scoring system,external masculinization score(EMS)and internal masculinization score(IMS)were used for assessing 416 physical examination boys and 106 cases of 46,XY DSD.Results In physical examination boys,415(99.8%)had EMS≥11.Among affected children,sex of rearing was boy(n=81)and girl(n=25).The median scores of EMS and IMS were 6(3,10),9(9,9)and 2(1.5,2),9(7,9)points respectively.Statistical difference existed in inter-gender EMS score.Boy group had a higher score(P=0.000);There was no statistical difference in inter-gender IMS score.For IMS score,the incidence of uterus,urogenital sinus,vagina/prostatic cyst and deficiency of deferent duct were higher in boy than those in girl(P<0.05).Conclusion EMS/IMS provides a objective,standardized and simple format of assessing the clinical features of children with 46,XY DSD.