[关键词] 46，XY 性发育异常疾病；诊断；治疗Diagnosis and treatment of 46, XY DSDFEI Yingchun, XU Zhe*, LIU Wenxu, XIE Jialun, LI Zuoqing（Department of Pediatric Surgery, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, China）[Abstract] Objective: To summarize the clinical characteristic and rational treatment of 46,XY DSD. Methods: A retrospective analysis was performed on 26 46,XY DSD patients which were admitted in our hospital from 1979.1 to 2024.2, including sex chromosome, gonad, pudendum appearance, course of treatment, etc. Results: There were 14 cases of androgen insensitive syndrome, 5 cases of 5 -reducase abnormality, 4 cases of Muller"s αduct perpetuity syndrome, 3 cases of testosterone dyssynthesis. The social sex were determined to be male in 15 cases, female in 11 cases which were performed orchiectomy. Conclusion: The diagnosis and typing of 46, XY DSD are based on careful physical examination, aggregate analysis of phenotype, sex chromosome, gonads, etc. The social sex should be determined before 3 years old.[Key words] 46, XY DSD; Diagnosis; Treatment46，XY 性发育异常疾病临床时有见到，其表现较复杂，外阴可呈完全女性化至完全男性化，其性染色体为 46，XY，性腺为睾丸，社会性别或男或女或模糊不定。诊断较复杂，治疗上有一定难度，影响身心较大且持久。我院 1979 年 1 月～2024 年 2 月共收治 26例，分析如下：1.1 诊断标准（1）性腺为睾丸；（2）性染色体为 46，XY。伴下列任何一项：①完全男性化合并隐睾，伴有子宫输卵管阴道。②外阴完全女性化，阴茎细小如阴蒂，外观可见到阴道开口。③会阴模棱两可，呈尿生殖窦开口，探查发现有前列囊或阴道或并有子宫、输卵管。1.2 社会性别男、女各 13 例。年龄 1～16 岁，平均 10 岁。1.3 临床表现外阴完全男性化 2 例，外阴完全女性化 5 例（外观分别有尿道、阴道开口）；会阴呈单一尿生殖窦开口 19 例；睾丸在盆腔内 13 只（8 例次），位于腹股沟处 2...
