Mao Yu, Chen Shaoji, Wang Ru, Wang Xuejun, Qin Daorui, Tang Yunman
Department of Pediatric Surgery of Children's Medical Center, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China.
Department of Burn and Plastic Surgery, West China Hospital of Sichuan University, Chengdu, China.
BMC Urol. 2017 Mar 28;17(1):21. doi: 10.1186/s12894-017-0212-8.
The aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China.
Sixteen patients with OT-DSD during the past 4 years underwent the evaluation and treatment in a single center. The clinical characteristics and outcomes of surgery were analyzed.
The surgical age ranged from 17 months to 66 months with a mean age of 20 months, and the mean follow-up was 30 months (4 months to 56 months). The presentation in 11 patients was ambiguous genitalia, and the rest 5 patients were suspected to have DSD in preoperative examination before hypospadias repair. The karyotypes were 46, XX in 11 patients, 46, XX/46, XY in 3, 46, XX/47, XXY in 1, and 46, XY in 1. Initial reared sex was male in 14 patients, female in 1, and undetermined in 1. After surgery, genders were reassigned in 3 patients, while 15 patients were raised as male with testicular tissue left. Only 1 patient with ovarian tissue left was raised as female. Repair was completed in 11 males and 1 female, and stage I urethroplasty was done in 4 males. No further surgery to remove the gonads was needed for inconsonance of gender assignment. No gonadal tumors were detected.
OT-DSD is a rare and complex deformity with few systematic reports in China. It's important to establish a regular algorithm for evaluation and treatment of OT-DSD.
本研究旨在回顾并呈现近年来中国某单中心OT-DSD的临床特征以及评估和治疗过程。
过去4年中，16例OT-DSD患者在某单中心接受了评估和治疗。分析了手术的临床特征及结果。
手术年龄为17个月至66个月，平均年龄20个月，平均随访时间为30个月（4个月至56个月）。11例患者表现为生殖器模糊，其余5例患者在尿道下裂修复术前检查中疑似患有DSD。核型分析结果为：11例患者为46, XX，3例为46, XX/46, XY，1例为46, XX/47, XXY，1例为46, XY。最初抚养性别为男性的有14例，女性1例，未确定1例。术后，3例患者进行了性别重新分配，15例保留睾丸组织的患者按男性抚养。仅1例保留卵巢组织的患者按女性抚养。11例男性和1例女性完成了修复，4例男性进行了一期尿道成形术。因性别分配不一致，无需进一步手术切除性腺。未检测到性腺肿瘤。
OT-DSD是一种罕见且复杂的畸形，在中国鲜有系统报道。建立规范的OT-DSD评估和治疗流程很重要。
