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):520-525.[doi:10.3760/cma.j.cn101785-20260212-00069]
卵睾型性发育异常的再认识——单中心10年诊治经验
- Title:
- Clinical characteristics and management of ovotesticular disorder of sex development:a single-center experience
- Keywords:
- Ovotesticular Disorder of Sex Development; Hypospadias; Sex Chromosome Aberrations; Symptoms and Signs; Gonadal Biopsy; Urogenital Surgical Procedures; Treatment Outcome; Long-Term Follow-up
- 摘要:
- 目的 总结卵睾型性发育异常(ovotesticular disorder of sex development,OT-DSD)患儿的临床特点与单中心诊治经验,以深化疾病认识、优化诊疗策略。方法 本研究为回顾性病例系列研究。纳入2016年1月至2025年10月于首都医科大学附属北京儿童医院泌尿外科就诊,经性腺探查术和性腺组织病理活检确诊为OT-DSD的患儿,收集患儿社会性别、年龄、临床表现、染色体核型、性腺位置与病理类型、合并畸形及诊疗方案等指标,归纳分析其临床特点及诊治经验。结果 55例患儿中,社会性别男性42例、女性13例。中位年龄43个月。主要临床表现为尿道下裂42例(42/55,76.3%),阴蒂肥大12例(12/55,21.8%)。染色体核型为46,XX 最多(38/55,69.1%),其次为46,XX/46,XY (6/55,10.9%)。合并隐睾35例(35/55,63.6%),合并腹股沟斜疝9例(9/55,16.4%),合并鞘膜积液3例(3/55,5.5%)。55例患儿合计110侧性腺,明确诊断后按男性抚养42例,按女性抚养8例,5例尚未决定最终抚养性别。尿道下裂患儿均为重度,平均尿道缺损长度6.46 cm。手术方式以分期Duckett术为主(50%)。全组患儿平均随访46个月。在37例已完成尿道下裂手术的患儿中,发生尿道瘘4例(10.8%),尿道狭窄6例(16.2%),尿道憩室1例(2.7%),尿道瘘合并尿道狭窄2例(5.4%);平均手术次数2.16次。男性抚养者均切除卵巢性腺,3例青春期出现周期性血精,再次手术发现卵睾索样结构。结论 OT-DSD患儿多表现为严重尿道下裂伴隐睾,染色体核型以46,XX常见。对于阴囊内性腺需警惕卵睾的可能性,应综合评估激素水平,及时行活检以防漏诊。患儿应坚持长期随访监测,警惕卵睾索残留及性腺肿瘤发生。
- Abstract:
- Objective To summarize the clinical characteristics and diagnostic and therapeutic experiences of children with ovotesticular disorder of sex development (OT-DSD),aiming to deepen the understanding of this disease and optimize clinical management strategies. Methods A retrospective clinical study was conducted for 55 children diagnosed with OT-DSD by gonadal biopsy from January 2016 to October 2025.The relevant clinical data included social sex,age,clinical manifestations,karyotype,location and pathology of gonads,associated anomalies and therapeutic strategies.Clinical features and managements were examined. Results Social sex:male in 42 cases and female in 13 cases.Median age was 43 month.Clinical manifestations included hypospadias (n=42,76.3%) and clitoral hypertrophy (n=12,21.8%).Karyotype:46,XX was the most common (69.1%) and followed by 46,XX/46,XY (10.9%).Associated anomalies included cryptorchidism (n=35,63.6%),indirect inguinal hernia (n=9,16.4%) and hydrocele (n=3,5.5%).A total of 110 gonadal sides were examined.After pathological diagnoses,42 cases were raised as males,8 as females and 5 had not yet determined final sex of rearing.All hypospadiacs had severe forms with a mean urethral defect length of 6.46 cm.Staged Duckett procedure was the predominant surgical approach (50%).There was a mean follow-up period of 46 months.Among 37 cases completing hypospadias repair,complications included urethral fistula (n=4,10.8%),urethral stricture (n=6,16.2%) urethral diverticulum (n=1,2.7%) and combined fistula and stricture (n=2,5.4%).The mean frequency of surgeries was 2.16.All cases raised as males underwent complete removal of ovarian tissue.Three cases of cyclic hematospermia during puberty underwent re-operation.And ovotesticular cord-like structures were confirmed by pathological examination. Conclusion With 46,XX as the most common karyotype,OT-DSD often presents as severe hypospadias with cryptorchidism.The possibility of ovotestis should be considered even for gonads located within scrotum.Comprehensive evaluations of hormone levels and timely gonadal biopsy are essential for avoiding a misdiagnosis.Long-term follow-up is particularly necessary for monitoring the presence of ovotesticular cord structures and gonadal tumors.
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备注/Memo
收稿日期:2026-2-12。
通讯作者:宋宏程,Email:songhch1975@126.com