尿道下裂患儿细胞遗传学特点分析

Analysis of cytogenetic characteristics of 321 children with hypospadias and literature review

目的探讨尿道下裂患儿的细胞遗传学特点。方法回顾性分析2008年6月至2018年5月于天津市儿童医院就诊的45例有细胞遗传学异常的尿道下裂患儿的临床资料。中位年龄为10个月(3 h~5岁)。45例中20例为近端型尿道下裂,1例为中段型尿道下裂;24例合并不同程度的泌尿生殖系统畸形,其中15例合并单侧或双侧隐睾,5例阴囊分裂,3例阴茎阴囊转位,3例小阴茎,3例合并腹股沟斜疝,1例重复尿道,1例鞘膜积液,1例隐匿阴茎。在合并其他系统畸形方面,1例合并唇腭裂,1例合并先天性心脏病。患儿均行外周血淋巴细胞G显带染色体核型分析,分析患儿的细胞遗传学特点。结果45例中,性染色体异常28例(62.22%),包括47,XXY、46,XX/47,XXY、45,X0/47,XYY等核型;性反转8例(17.78%),均为46,XX;常染色体异常4例(8.89%),包括46,XY,9p+、46,XY,10p+和46,XY,1q+;染色体多态性4例(8.89%),包括46,XY,inv(9)和46,XY,16qh+;平衡易位1例(2.22%),为45,XY,-21,-22,+t(21;22)。45例中8例染色体核型为46,XX的尿道下裂患儿,即性反转患儿,均为近端型尿道下裂。结论尿道下裂患儿可合并染色体核型异常,包括性染色体异常、常染色体异常、染色体多态性及染色体平衡易位,其中性染色体异常最多见,平衡易位最少见。

Objective To explore the cytogenetic characteristics of hypospadias in children by karyotype analysis.Methods From June 2008 to May 2018,45 children with hypospadias in Tianjin Children's Hospital had cytogenetic abnormalities.Their median age was 10 months(range 3 hours to 5 years old).Of the 45 cases,20 were proximal hypospadias,1 was middle hypospadias.All 24 cases had varying degrees of genitourinary malformations.Among them,15 cases had unilateral or bilateral cryptorchidism,5 cases had scrotal division,3 cases had penile scrotal transposition,3 cases had small penis,3 cases had indirect inguinal hernia,1 case had repeated urethra,1 case had hydrocele and 1 case had concealed penis.To the other systemic malformations,there was 1 with cleft lip and palate and 1 with congenital heart disease.G-banding karyotype analysis of peripheral blood lymphocytes was performed in all 45 cases.Results Among the 45 cases of hypospadias with abnormal karyotypes,with an abnormal rate of 14.0%,28 cases(62.22%)had sex chromosome abnormalities,including(47,XXY),(46,XX/47,XXY),(45,X0/47,XYY),etc.Sexual inversion occurred in 8 cases(17.78%),all of which were 46,XX.There were 4 autosomal abnormalities(8.89%),including(46,XY,9p+),(46,XY,10p+)and(46,XY,1q+).Chromosome polymorphism was found in 4 cases(8.89%),including[46,XY,inv(9)]and[46,XY,16qh+],and the equilibrium translocation of 1 case(2.22%)was[45,XY,-21,-22,+t(21;22)].Among the 45 cases,8 sex reversal children with(46,XX)chromosome karyotype were all proximal hypospadias.Conclusions Children with hypospadias may be associated with chromosomal karyotype abnormalities,including sex chromosomal abnormalities,autosomal abnormalities,chromosome polymorphism and balanced translocation.Among them,sex chromosome abnormality was the most common and balanced translocation was the least.