目的对睾丸发育不全２３例进行细胞遗传学分析。方法全部病例单侧或双侧睾丸容积≤８ｍｌ。按照血清促性腺激素水平分成两大临床类型，即高促性腺激素型（１７例）和低促性腺激素型（６例）。结果２３例睾九发育不全的染色体核型分布如下：克氏综合征１１例，核型为４７，ＸＸＹ者９例，为４６，ＸＹ／４７，ＸＸＹ嵌合型者２例；唯支持细胞综合征２例，核型为４６，ＸＹ；男性Ｔｕｒｎｅｒ氏综合征１例，核型为４５，ＸＯ／４６，ＸＹ；睾丸女性化综合征２例，核型为４６，ＸＹ；真两性畸形１例，核型为４６，ＸＸ／４６，ＸＹ。以上１７例属于高促性腺激素性性腺功能低下症。余下的６例（垂体性侏儒症３例，肥胖—生殖无能综合征２例；Ｋａｌｍａｎ氏综合征１例）属于低促性腺性性腺功能低下症，其染色体核型为４６，ＸＹ。结论对于睾丸发育不全的患者进行细胞遗传学检查是重要的。 Objective To investigate the cytogenetic analysis of 23 cases of testicular dysplasia. Methods All cases of unilateral or bilateral testicular volume ≤ 8ml. Serum gonadotropin levels were divided into two major clinical categories, namely, high gonadotropin (17 cases) and low gonadotropin (6 cases). Results The distribution of karyotypes in 23 cases of dysplastic dysplasia was as follows: 11 cases of Kirschner’s syndrome, 47 cases of karyotype, 9 cases of XXY, 46 cases of XY / 47 and XXY chimerism; only supportive cell synthesis 2 cases, karyotype 46, XY; male Turner’s syndrome in 1 case, Karyotype 45, XO / 46, XY; testicular feminization syndrome in 2 cases, Karyotype 46, XY; , Karyotype 46, XX / 46, XY. The above 17 cases belong to high gonadotropin hypogonadism. The remaining 6 cases (3 cases of pituitary dwarfism, 2 cases of obesity - reproductive incompetence syndrome; Kalman’s syndrome in 1 case) are low gonadal gonadal dysfunction, the chromosome karyotype 46, XY. Conclusion Cytogenetic testing is important in patients with testicular hypoplasia.