卵睾型性发育异常14例临床特点及诊治分析

发布时间：2018-07-30 06:58

【摘要】：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1995年1月至2014年6月就诊于解放军总医院院并经手术证实的14例卵睾型性发育异常患者临床资料和随访资料。结果社会性别:男性8例,女性6例;外生殖器表型:"女性"表现为阴蒂肥大3例,小阴茎2例,阴茎型尿道下裂1例;"男性"表现为尿道下裂,其中阴茎头型2例,会阴型2例,阴茎型1例,阴囊型2例,阴茎短小1例。染色体核型分析:46,XX 9例,其中7例SRY基因阴性,46,XY 4例,46,XY/45,XO 1例;10例患儿睾酮水平低,3例青春期乳房发育者雌二醇、黄体生成素、卵泡刺激素水平在正常范围;性腺畸形:双侧型3例,单侧型6例,片侧型5例。所有患者均切除不适当的性腺组织,4例青春期龄患者中2例予雌激素替代治疗,2例予雄激素替代治疗。7例患者进行3个月至10年的随访,按男性抚养者4例,1例尚未进入青春期,2例青春期发育正常,1例反复发生尿道狭窄;按女性抚养者3例,1例予雌激素替代治疗后获得青春期发育,1例处于青春期发育正常,1例发生阴道狭窄。结论早期诊断,根据内、外生殖器优势选择合适的性别,并行选择性性腺手术,对于维持患者正常的性生理、性心理及社会生活具有重要的意义。长期随访对于解决患者在术后所遇到的心理、泌尿生殖系统问题是必不可少的。
[Abstract]:Objective to summarize the clinical features, diagnosis and treatment of otorchidism dysplasia. Methods the clinical data and follow-up data of 14 patients with otorchidism dysplasia admitted to PLA General Hospital from January 1995 to June 2014 were retrospectively analyzed. Results gender: male 8 cases, female 6 cases; external genitalia phenotype: 3 cases of clitoris hypertrophy, 2 cases of small penis, 1 case of penile hypospadias, 2 cases of "male" hypospadias, 2 cases of penile head type. There were 2 cases of perineal type, 1 case of penile type, 2 cases of scrotal type and 1 case of short penis. Chromosomal karyotype analysis was performed in 9 cases, of which 7 cases were negative for SRY gene, 4 cases had low testosterone level in 10 cases and 10 cases had low testosterone level. The levels of estradiol, luteinizing hormone and follicle stimulating hormone were in normal range in 3 cases of pubertal breast development. There were 3 cases of bilateral type, 6 cases of unilateral type and 5 cases of lamellar type. All patients were treated with estrogen replacement therapy (EST) and androgen replacement therapy (androgen replacement therapy) for 3 months to 10 years. Urethral stricture occurred repeatedly in 4 male dependents, 1 case was not in puberty and 2 cases had normal puberty development. According to 3 female dependents, 1 case received estrogen replacement therapy, 1 case had normal puberty development and 1 case had vaginal stenosis. Conclusion early diagnosis, selection of suitable sex according to internal and external genitalia advantages, and selective gonadal surgery are of great significance in maintaining normal sexual physiology, sexual psychology and social life of patients. Long-term follow-up is essential for resolving the psychological and urogenital problems encountered by patients after surgery.
【作者单位】：解放军总医院内分泌科;
【分类号】：R711.1

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