目的:探讨46,XX 男性综合征的诊断和治疗。临床资料:4例46,XX 男性,均有尿道下裂,2例伴有隐睾,2例为同胞兄弟。全部病例性腺活检,均为睾丸组织,1例双侧睾丸上方有增殖期子宫内膜组织。治疗结果:4例均作男性方案处理,例1及例2已成功地用膀胱粘膜作了尿道成形术。结论:尿道下裂伴隐睾或有多发畸形者,应作性染色体检查及性腺活检。手术治疗应尽早施行,以减少患儿及家长的心理压力。 Objective: To investigate the diagnosis and treatment of 46 and XX male syndromes. Clinical data: 4 cases of 46, XX males, both hypospadias, 2 cases with cryptorchidism, 2 cases were siblings. All cases of gonad biopsy, are testicular tissue, 1 case of bilateral proliferative endometrial tissue above the testes. Treatment outcome: Four patients were treated as men, and cases 1 and 2 had been successfully treated with urethroplasty with bladder mucosa. Conclusions: hypospadias with cryptorchidism or multiple deformities should be sex chromosome examination and gonad biopsy. Surgical treatment should be implemented as soon as possible to reduce the psychological pressure on children and parents.