卵睾型性发育异常14例临床特点及诊治分析

Diagnosis and management of ovotesticular disorders of sex development: a clinical study of 14 cases

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。

Objective Ovotesticular disorders of sex development（DSD） is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in an individual. We aim to summarize the clinical characteristics of ovotesticular DSD as well as the experiences in its dignosis and treatment. Methods We retrospectively reviewed 14 patients with histologically confirmed ovotesticular DSD treated at the General Hospital of Chinese PLA between 1995 and 2014. Results Eight out of 14 patients were raised as males, and the other six were raised as females. All patients had ambiguous genitalia. The most common karyotype of ovotesticular DSD was 46, XX, constituting 64.2% of our series. The frequency of the SRY gene in 46, XX cases was 22.2%. Ovotestis was the most frequent finding（42.9%）.Exploration of the gonads revealed bilateral ovotestis in 3 patients, ovotestis plus ovary or testis in 6 patients, ovary on the one side and testis on the other side in 5 patients. Lower basal testosterone concentrations and lower basal estradiol levels were observed in 10 patients. All patients received conservative gonadal surgery and 4 patients received hormone replacement therapy. Seven patients were followed up for 3 months to 10 years. Three out of 7 patients obtained appropriate pubertal development. No gonadal tumors were detected during following up. Conclusion Diagnosis of ovotesticular DSD is well defined. It is important that a thorough examination should be made in patients with ambiguous genitalia, clitoromegaly and severe hypospadias. Earlier diagnosis and more appropriate conservative gonadal surgery are very significant to the prognosis. The appropriate choice of gender should be made according to the characteristics of external genitals and the prominent gonads. Continued follow up is necessary because of the multiple psychological, gynecological and urological problems encountered postoperatively by these patients.