Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series

Abstract

Background: 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. Methods: 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. Results: 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. Conclusions: 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.