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目的 总结卵睾型性发育异常的临床特点及诊治经验.方法 回顾性分析1993年1月至2015年12月就诊于医院并通过病理确诊卵睾型性发育异常的32例患儿临床资料和随访资料.社会性别:男30例,女2例.12.5％呈女性外貌,生殖器类别模糊,阴蒂1～3 cm,小阴唇发育差,有乳房发育;87.5％呈男性外貌,阴茎发育极差,重度下弯,尿道开口异常(位于阴囊处或会阴部),阴囊不同程度女性化,外形近阴唇貌,其中46.9％(15/32)伴有隐睾.染色体核型分析:46,XX卵睾型DSD 11例;46,XY卵睾型DSD 1例;性染色体异常DSD中的卵睾型性发育异常20例(嵌合性46,XY/46,XX6例;混合型14例).结果 11例行泌尿生殖系彩超和排泄性尿道阴道造影,二者结合检出率为100％(11/11).5例行SYR基因筛查,1例45,X卵睾型DSD及1例45,X/46,XY卵睾型DSD为SYR阳性,1例45,X/46,XY SYR基因为阴性,余2例46,XX卵睾型DSD中,50％SYR基因为阴性.64个性腺中16个卵睾,25个睾丸,23个卵巢.性腺畸形:双侧型5例,单侧型6例,片侧型21例.30例按男性抚养者均完成阴茎矫直术和尿道重建术.对29例患儿进行8个月～9年的随访,其中3例术后反复发生尿瘘,多次行尿瘘修补术,阴茎及睾丸发育极差,生活质量差;4例术后尿道开口位于冠状沟部或阴茎体部,排尿可;3例进入青春期后有乳房发育;2例阴茎、睾丸发育稍差;余阴茎形态可,长2.5～4.0 cm,睾丸测值较同龄人稍小.2例按女性抚养者均完成阴蒂矫形术,均获得满意的外观,1例处于青春期发育阶段,另1例予雌激素替代治疗后获得青春期发育,外阴形态可,有乳房发育.结论 早期诊断,确诊后是否立刻性别选择行手术治疗仍有争议,我们认为应将患儿的心理性别、社会性别作为参考的首要标准结合激素水平评估、优势性腺评估最后选择性腺切除或重建手术并辅以激素治疗.对于维持患儿正常的性生理、性心理及社会生活具有重要的意义.“,”Objective To summarize the clinical characteristics,diagnosis and treatment of ovotesticular disorders of sex development (DSD).Methods Retrospective analyses were conducted for 32 hospitalized patients of ovotesticular DSD from 1993 to 2015.Social gender:30 cases were raised as males while another 2 as females.12.5％ with female appearance,mammary development,unclear genital appearance and clitoris with a length of 1-3 cm.87.5％ with male appearance,poor phallic development and severe hypospadias.Scrotums were shaped like labia while 46.88％ (15/32) had undescended testis.Karyotype:The number of 46,XX ovotesticular DSD was 11.There were 1 case of 46,XY and 20 cases of sex chromosome DSD (mosaic 46XY/46XX,n =6;mixed,n =14).Results Routine ultrasound and excretory urography were conducted in 11 cases and the detecting ratio was 100％(11/11).Genetic screening of SYR gene was performed in 5 cases.There were 45X ovotesticular (n =1) and 45X/46Y DSD + (n =1),45X/46XY-(n =1) and 50％ (1/2) of 46XX ovotesticular DSD was screened positive.Among 64 individual glands,there were ovotesticular (n =16),testes (n =25)and ovary (n =23).Exploration of gonads revealed bilateral ovotestis (n =5),ovotestis plus ovary or testis (n =6),unilateral ovary & contralateral testis (n =21).Thirty males underwent penile straightening and urethra reconstruction.And 29 of them were followed up for 8 months to 9 years.Three cases had recurrent urinary fistula,with poor development of penis and testis and poor qualityof-life.Meatus urinarius was present at coronary sulcus or penis body (n =4) and breast development occurred after puberty (n =3).The others achieved a better prognosis of penis 2.5-4.0 cm long and smaller testis.Two females (2/32) underwent clitoris orthopedic surgery with good cosmetics.One case was adolescent while another case received estrogen and obtained satisfactory genital morphology and breast development.Conclusions The role of operation is ill-defined after a definite diagnosis of ovotesticular DSD.Psychological changes during growth should be primarily considered for choosing gonadal resection or reconstruction.In conjunctions with hormonal levels,superior gonadal assessment may guide the final choice.And subsequent hormonal therapy is needed.