Liu Wen,Liu Pei,Liang Haiyan,et al.Clinical characteristics of ovotesticular disorder of sex development (OT-DSD) with transverse gonad ectopia and a literature review[J].Journal of Clinical Pediatric Surgery,2026,(06):546-551.[doi:10.3760/cma.j.cn101785-20260324-00129]
卵睾型性发育异常伴性腺横跨异位的临床特点及文献回顾
- Title:
- Clinical characteristics of ovotesticular disorder of sex development (OT-DSD) with transverse gonad ectopia and a literature review
- Keywords:
- Ovotesticular Disorder of Sex Development; Ovotesticular Transverse Ectopia; Symptoms and Signs; Diagnosis; Urogenital Surgical Procedures; Treatment Outcome
- 摘要:
- 目的 总结卵睾型性发育异常伴性腺横跨异位(ovotesticular transverse ectopia,OTTE)的临床特点。方法 本研究为回顾性病例系列分析。收集2015年1月至2026年1月首都医科大学附属北京儿童医院诊治的卵睾型性发育异常合并性腺横跨异位患儿以下临床资料:首次就诊原因、外生殖器男性化评分(external masculinization score,EMS)、抚养性别、基础性激素水平及性激素激发试验结果、抗苗勒管激素(anti-Mullerian hormone,AMH)、染色体核型及基因检测结果、影像学检查、手术年龄、术中所见、手术处理方式及病理学结果。同时,以英文检索词"Ovotesticular Disorders of Sex Development" AND "ectopia"、 "卵睾"和"异位/横跨"为关键词,分别检索PubMed和万方数据库1955年1月至2025年12月期间所有相关文献,纳入符合OOTE诊断的回顾性病例分析文献。结果 本中心共收治6例患儿,染色体核型均为46,XX,SRY基因(-)。性腺组合:双侧卵睾5例,最终均决定抚养为男性;卵睾-卵巢1例,最终决定抚养为女性。6例横跨性腺均为卵睾,其中5例表现为左侧卵睾横跨至右侧。性腺处理:多一期行腹腔镜探查+性腺活检术,二期行异质性腺切除+性腺固定术。除1例女性患儿外,4例接受分期尿道成形术。5例保留苗勒管,1例为减轻牵拉张力沿中线劈开子宫。文献检索共纳入4例OTTE,均为手术探查中偶然发现,7枚性腺整体与苗勒管一起切除。结论 卵睾横跨异位表型隐匿、术前识别困难。目前尚无统一的诊疗指南与标准化管理路径,临床处理多依赖有经验的中心进行多学科评估与个体化决策。
- Abstract:
- Objective To summarize the clinical characteristics of ovotesticular disorder of sex development (OT-DSD) with transverse gonad ectopia. Methods For this case series,the authors retrospectively reviewed OT-DSD complicated by transverse ectopia (OTTE) hospitalized between January 2015 and January 2026.The following clinical data were collected:initial presentation,external masculinization score (EMS),assigned gender,sex hormone and stimulation tests,anti-Müllerian hormone (AMH) level,karyotype and gene testing,imaging findings,operative age,intraoperative findings,surgical interventions and pathological outcomes.In addition,PubMed and WANFANG were searched between January 1955 and December 2025 to identify published cases of OTTE,using terms ("ovotesticular disorders of sex development" AND "ectopia") and Chinese terms.All clinical and surgical data were extracted. Results Six children at our center had a 46,XX karyotype and all of them were SRY-negative.Five had bilateral ovotestes (5/6) assigned as boys and another one of ovotestis-ovary gonads was reared as a girl ultimately.Crossed gonads were ovotestes in all cases.Five cases showed a left ovotestis crossing to right side.The management of gonald was typically staged:first-stage gonadal biopsy by laparoscopy,followed by excision of heterologous gonadal tissue and gonadal fixation.Four children underwent staged repair except for female.Müllerian structures were preserved (n=5) and split along midline to lesson traction tension (n=1).The literature review identified four OOTE cases detected incidentally during surgical explorations.And 7 gonads were resected together with Müllerian remnants. Conclusion OTTE is latent clinically and difficult to recognize preoperatively.Due to a lack of standardized guidelines,its clinical management largely relies on multidisciplinary evaluations and individualized decision-making at experienced centers.
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相似文献/References:
[1]王冠男,宋宏程,梁海燕,等.卵睾型性发育异常的临床特征分析[J].临床小儿外科杂志,2020,19(11):1021.[doi:10.3969/j.issn.1671-6353.2020.11.012]
Wang Guannan,Song Hongcheng,Liang Haiyan,et al.Analysis of clinical characteristics and characteristics of ovarian testicular dysplasia[J].Journal of Clinical Pediatric Surgery,2020,19(06):1021.[doi:10.3969/j.issn.1671-6353.2020.11.012]
[2]梁海燕,刘沛,温煦,等.卵睾型性发育异常的再认识——单中心10年诊治经验[J].临床小儿外科杂志,2026,(06):520.[doi:10.3760/cma.j.cn101785-20260212-00069]
Liang Haiyan,Liu Pei,Wen Xu,et al.Clinical characteristics and management of ovotesticular disorder of sex development:a single-center experience[J].Journal of Clinical Pediatric Surgery,2026,(06):520.[doi:10.3760/cma.j.cn101785-20260212-00069]
备注/Memo
收稿日期:2026-3-24。
通讯作者:张潍平,Email:zhangwp59616406@126.com