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对４２ 例先天性尿道下裂患者外周血白细胞，采取 Ｐ Ｃ Ｒ 方法，进行 Ｓ Ｒ Ｙ 基因的检测。结果发现２ 例先天性尿道下裂患者 Ｓ Ｒ Ｙ 基因缺失。我们认为先天性尿道下裂是一种性别发育异常综合症，尿道的缺失只是其性腺发育不全的表现之一； Ｓ Ｒ Ｙ 基因不是决定性别的唯一基因， Ｓ Ｒ Ｙ 基因的缺失或突变可能导致性发育一系列异常改变， Ｓ Ｒ Ｙ 基因是性别决定的主导基因；尿道下裂发生可能与 Ｓ Ｒ Ｙ 基因缺乏，突变有关，故对尿道下裂等泌尿生殖系畸形患者进行 Ｓ Ｒ Ｙ 基因检测，对计划生育及优生优育具有十分重要的意义。
42 cases of congenital hypospadias patients with peripheral leukocytes, using P C R method, S R Y gene detection. The results showed that 2 cases of congenital hypospadias S R Y gene deletion. We think congenital hypospadias is a syndrome of gender dysplasia, urethral degeneration is only one manifestation of its gonadal dysgenesis; SRY gene is not the only sex-specific genes, SRY gene deletion or mutation may lead to Sexual development of a series of abnormal changes, SRY gene is the dominant determinant of sex; hypospadias may be associated with the lack of SRY gene mutation, so hypospadias genitourinary abnormalities such as SRY gene detection , On family planning and prenatal and postnatal care is of great significance.