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Objective . In the process of care for disorders of sex development (DSD), clinical decisions should focus on the long-term quality of life (QOL). We sought to investigate the QOL of patients with DSD in China.  Design . Case-control study was carried out.  Patients.  90 patients of DSD participated in the study. Finally, 87 patients were analyzed including Turner's syndrome (23), Noonan syndrome (2), androgen insensitivity syndrome (22), testicular regression syndrome (2), congenital adrenal hyperplasia (16), and pure gonadal dysgenesis (22).  Measurements . The WHOQOL-BREF questionnaire was chosen for the present investigation. Four domain scores were analyzed independently including physical, psychological, and social relationship and environmental domains.  Results . The average age of the DSD group is 22.34 ± 4.97 years, and only 13.79% patients ever had sexual life. The scores of psychological and environmental domains were lower than that of the physical and social relationship domains, but the difference was not significant ( P  > 0.05). Compared with the Chinese urban population, the QOL scores of DSD patients in China were not significantly lower.  Conclusions . With proper treatment, including the follow-up and psychological support, the QOL of DSD patients cannot be significantly reduced. For DSD patients, more attention should be paid to the potential psychological and sexual problems.

The Investigation of Quality of Life in 87 Chinese Patients with Disorders of Sex Development