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筛选性分化异常患者180例行细胞遗传学检查。结果检出:性腺发育不全64例;性染色体异常55例(检出率31%)。其中表型与核型不一致24例,包括睾丸女性化17例,性反转综合征7例;男性性染色体数目异常31例,包括先天性小睾丸征30例,XYY 综合征1例;女性假两性畸形28例;尿道下裂22例.包括男性19例,女性3例。文章就各类型性分化异常的临床特征、性腺功能及细胞遗传学进行了讨论。
180 patients with abnormal screening screening cytogenetic examination. The results were detected: gonadal dysplasia in 64 cases; 55 cases of chromosomal abnormalities (detection rate of 31%). The phenotype and karyotype were inconsistent in 24 cases, including 17 cases of testicular feminization, 7 cases of sexual inversion syndrome; 31 cases of male sex chromosome abnormalities, including 30 cases of congenital testicular syndrome, XYY syndrome in 1 case; female leave 28 cases of genital malformations, 22 cases of hypospadias, including 19 males and 3 females. The article discusses the clinical features of various types of dysplasia, gonadal function and cytogenetics.