卵巢睾丸性性发育异常中性腺优势与内生殖器生育潜能——22例病例报告及文献复习  

Gonadal dominance and reproductive potential of internal genital organs in patients with ovotesticular disorders of sex development——report of 22 cases and literature review

作　　者：邓姗[1] 於利刚 孙爱军[1] 陈蓉[1] 郁琦[1] 田秦杰[1] DENG Shan;YU Li-gang;SUN Ai-jun;CHEN Rong;YU Qi;TIAN Qin-jie(Center of Gynecological Endocrinology and Reproduction,Peking Union Medical College Hospital,Peking Union Medical College/Chinese Academy of Medical Sciences,Beijing 100730;Department of Gynecology,Xiaoshan Hospital,Zhejiang,Hangzhou 311200)

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院妇科内分泌与生殖中心,北京100730 [2]浙江萧山医院妇科,杭州311200

出　　处：《生殖医学杂志》2020年第3期288-293,共6页Journal of Reproductive Medicine

基　　金：国家自然科学基金项目（81671424）

摘　　要：目的探讨卵巢睾丸性性发育异常(OT-DSD)患者的性腺优势和内生殖器潜能。方法回顾性分析北京协和医院1977年3月至2019年8月收治的22例OT-DSD患者的临床资料,着重对其性腺及内生殖器的发育进行比对;并对同期中文文献中的242例相关病例进行汇总分析,对国外新近相关文献进行复习。结果OT-DSD患者最常见的染色体核型是46,XX,本院22例患者中占68.2%(12/22),国内文献资料中占60.8%(132/217);性腺的占比排序为:卵睾>卵巢>睾丸(约4∶3∶3);国内文献中患者资料汇总分析的性腺组合的排序为:分侧型(卵巢-睾丸45.1%)、单侧性(卵睾-卵巢17.4%和卵睾-睾丸13.0%)、双侧性(卵睾-卵睾24.5%)。本院的全部病例和国内文献中的绝大多数病例均有子宫,睾丸侧无子宫发育,卵巢和卵睾侧均有子宫发育,但常显示发育不良,且约半数(11/22例)合并无阴道或尿生殖窦异常。在社会性别为女性的19例患者中,5例因生殖道梗阻行子宫切除,9例阴道发育不良,3例发生卵巢早衰(POF),仅2例完成生育。结论OT-DSD是体现单侧性腺决定内生殖器发育的典型模型,卵睾侧也有子宫发育,患者的内生殖器以女性特征占优势,在性别认定上偏重女性倾向可能更合理,但同时合并生殖道畸形和POF的亦不少见。Objective:To investigate the gonadal dominance and internal genital potential in patients with ovotesticular disorders of sex development.Methods:The clinical data of 22 patients of ovotesticular disorders of sex development(DSD)admitted to our department from March 1977 to August 2019 were analyzed retrospectively.The development of internal genital organs with corresponding gonads was deliberately analyzed.242 related cases in the Chinese literature at the same period were summarized and reviewed.Results:The most common chromosome karyotype of ovotesticular DSD patients was 46,XX[68.2%in 22 cases of our hospital(12/22),60.8%in domestic literature data(132/217)].The proportion of gonad combination was:ovotesty>ovaries>testes(about 4∶3∶3).The combination of gonads in summary and analysis of patient data in domestic literature was sorted as followed:seperated(ovary-testicle,45.1%),unilateral(ovotesty-ovary,17.4%and ovotesty-testicle,13.0%),and bilateral(ovotesty-ovotesty,24.5%).All the patients in our hospital and the vast majority of the patients in the domestic literature had uterus,no uterus development on the testicular side,uterus development on the ovary and ovotestis side,but dysplasia was not rare,and half(11/22 cases)had no abnormal vagina or urogenital sinus abnormality.Among the 19 social female gender patients,5 patients had hysterectomy due to genital tract obstruction,9 patients had vaginal dysplasia,3 patients had premature ovarian failure(POF),and only 2 patients completed childbirth.Conclusions:Ovotesticular DSD is a typical model that reflects unilateral gonadal determining the development of internal genitalia.There is uterus development on side of ovotestis.The internal genital organs of these patients are dominated by female characteristics.It may be more reasonable to favor female in gender identification,but it is not uncommon to have genital malformations and POF at the same time.

关 键 词：卵巢睾丸性性分化异常 真两性畸形 内生殖器 性别认定 

分 类 号：R711.1[医药卫生—妇产科学]