儿童卵睾型性发育异常10例临床治疗经验总结

摘要

目的 总结儿童卵睾型性发育异常的诊断、性别选择及临床治疗.方法 回顾性分析2004-2014年在郑州大学第一附属医院手术治疗的10例卵睾型性发育异常患儿的临床资料.社会性别:男4例,女6例,首次就诊年龄11个月～14岁,10例患几均接受合理的性别选择、外科手术及内分泌药物治疗,随访其近期和远期治疗效果.结果 10例患者中1例男性矫治为女性,余9例性别未转变.按女性抚养者,行睾丸或卵睾组织切除和阴蒂会阴成形术,青春期后行阴道成形术.按男性抚养者,行睾丸固定,卵巢或卵睾及子宫附件切除,同期行尿道下裂成形修复.10例随访2～12年,家属及大年龄患儿均对性别选取满意,4例患儿进入青春期,其中2例女性第二性征发育中等或良好,2例男性阴茎及睾丸发育略差或中等,均有晨勃现象,性功能及生育能力需继续观察.结论 儿童卵睾型性发育异常需早期正确诊断,根据患儿的外生殖器、优势性腺、社会性别、结合患儿及家属意愿早期合理地选择性别并采取正确手术矫正,必要时辅以激素替代治疗及心理治疗,效果满意.%Objective To summarize the diagnosis,proper gender assignment and clinical treatment for the ovotesticular disorders of sex development (DSD) in children.Methods The clinical data of 10 cases with ovotesticular DSD received operative treatment in the First Affiliated Hospital of Zhengzhou University from 2004 to 2014 were retrospectively analyzed.Social gender:four were males and six were females;first visit age:from 11 months to 14 years old;treatment:all received proper gender assignment,and surgical treatment and following endocrine pharmacotherapy and recent and long-term follow-up.Results Out of 10 cases,1 case was converted to female by surgery,the gender of other 9 cases was not changed.Those who were raised as females received resection of testicular tissues and ovariotestis,and the plasty of clitoris and perineum,vaginoplasty for them would be done after puberty.And those who were brought up as males received orchiopexy,resection of ovary or ovariotestis,and uterine appendages,and repair of hypospadias.All of them were followed up for 2 to 12 years.The family members of the children and older children were all satisfied with the gender selection.Of the four cases entering adolescence,two females had moderate degree of secondary sex characteristics,two males had a slightly poorer and medium growth of penis but all had early morning erections,but their sexual function and fertility should be observed further.Conclusion The early and correctly diagnosis for ovotesticular DSD in children is very important.The gender should be reasonably selected based on external genitalia,dominant glands,social gender combined with the willing of the child and his or her family members and corrected by proper surgery in time.And when necessary,hormone replacement therapy and psychotherapy can be given to the patients in order to achieve satisfactory treatment effect.