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,,():520-525.[doi:10.3760/cma.j.cn101785-20260212-00069]
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
- 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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Memo
收稿日期:2026-2-12。
通讯作者:宋宏程,Email:songhch1975@126.com