122例尿道下裂男性患儿临床表现型与染色体核型关系分析

Analysis of relationship between clinical manifestations and karyotypes in 122 patients with hypospadias

目的分析尿道下裂男性患儿合并其他泌尿生殖系统畸形及染色体核型异常情况。方法收集122例尿道下裂男性患儿的临床资料,根据阴茎矫直后尿道口的位置对尿道下裂进行分型和分度,观察不同类型和不同程度的尿道下裂患儿合并其他泌尿生殖系统畸形的情况。对73例患儿行染色体核型分析,观察染色体异常患儿尿道下裂分型及合并其他泌尿生殖系统畸形的情况。结果 122例尿道下裂患儿中,合并其他泌尿生殖系统畸形76例(62.3%),包括阴茎阴囊转位、鞘膜积液、隐睾、腹股沟斜疝或合并多种畸形。轻度尿道下裂39例(32.0%),中度38例(31.1%),重度35例(28.7%),极重度10例(8.2%);中度、重度、极重度尿道下裂患儿合并其他畸形的发生率分别为73.7%、68.6%和70.0%,均明显高于轻度尿道下裂患儿合并其他畸形的发生率(43.6%),差异有统计学意义(P<0.05)。73例行染色体核型分析的患儿中,4例(5.5%)存在染色体异常。结论尿道下裂男性患儿中,合并阴茎阴囊转位最常见,中度及以上程度患儿合并其他泌尿生殖系统畸形的比例较高。染色体核型异常并非是导致尿道下裂合并其他畸形的主要因素。

Objective To investigate the occurrence of other urinogenital system malformations in 122 patients with hypospadias, and analyse its relationship with karyotypes. Methods The clinical data of 122 patients with hypospadias were collected. The occurrence of other urinogenital system malformations was observed in patients with different types and severity of hypospadias. The karyotypes of 73 patients were analysed, and the types of hypospadias and occurrence of other urinogenital system malformations were observed in patients with abnormal chromosome. Results Among the 122 patients with hypospadias, 76 （62.3%） combined with other urinogenital system malformations, including penoscrotal transposition, hydrocele, cryptorchidism, indirect inguinal hernia and multiple deformity. Thirty-nine patients （32.0%） exhibited mild hypospadias, 38 （31.3%） moderate, 35 （28.7%） severe, and 10 （8.2%） had extremely severe hypospadias. The prevalences of other urinogenital system malformations in patients with moderate, severe, and extremely severe hypospadias were 73.7%, 68.6% and 70.0% respectively, all of which were significantly higher than that in patients with mild hypospadias （43.6%）（P〈0.05）. Four （5.5%） of the 73 patients undergoing karyotype analysis had abnormal chromosome. Conclusion The most common associated anomalies in patients with hypospadias is penoscrotal transposition, and the incidence of other urogenital system malformations is relatively higher in patients with moderate or more severe hypospadias. Abnormal karyotype is not the main factor of hypospadias combined with other malformations.