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目的了解男性儿童以尿道下裂为主要症状的外生殖器畸形与染色体异常的关系。方法收集2002年~2008年9月间来我院就诊尿道下裂的患儿资料,每份病例都有完整的染色体检查和B超记录,有些需要有激素水平检测,必要时要有性腺活检。符合条件的共237例,根据临床表现分为两组:A组为单纯性尿道下裂共185例;B组为伴有其他外生殖器畸形组52例。结果 A组,发现6例为纯合或嵌合体(≥3%)的异常核型,发生率为3.2%;9例为低比例(≤3%)嵌合体,发生率4.9%。其中仅1例为性染色体异常,余为常染色体异常。B组,发现9例为纯合或嵌合体且全部为性染色体异常;1例常染色体异常的低比例嵌合体,发生率分别为17.3%、1.9%。10例染色体异常者中6例伴有双(或单)侧隐睾和(或)其他外生殖器畸形,4例只伴有其他畸形。结论本研究中,单纯性尿道下裂以常染色体异常为主;尿道下裂合并其他外生殖器畸形如隐睾、阴囊分裂、阴茎阴囊转位、小睾丸、小阴茎等要特别注意,性染色体异常率高(17.3%)。上述畸形要常规执行染色体核型分析。早期诊断、合理治疗、尽早进行遗传咨询,对于优生优育具有重要的指导意义。
Objective To understand the relationship between genital malformations and chromosomal abnormalities in male children with hypospadias as the main symptom. Methods The data of children with hypospadias treated in our hospital from 2002 to September 2008 were collected. Each case had a complete chromosomal test and B-mode ultrasonography. Some patients needed hormonal level examination and gonadal biopsy if necessary. A total of 237 cases eligible, divided into two groups according to clinical manifestations: A group of 185 cases of simple hypospadias; B group with other external genital malformations in 52 cases. Results In group A, 6 cases were homozygous or chimeric (≥3%) with abnormal karyotype, the incidence rate was 3.2%; 9 cases were low proportion (≤3%) chimera, the incidence was 4.9%. Only 1 case of sex chromosome abnormalities, more than the autosomal abnormalities. In Group B, 9 cases were found to be homozygous or chimeric and all of them had sex chromosome abnormalities. One case of autosomal low proportion chimera was 17.3% and 1.9% respectively. Six of the 10 cases with chromosomal abnormalities were associated with double (or single) lateral cryptorchidism and / or other genital malformations and 4 with other deformities. Conclusion In this study, simple hypospadias with autosomal abnormality mainly hypospadias associated with other external genital malformations such as cryptorchidism, scrotal splitting, penile scrotum transposition, small testis, small penis, etc. should pay special attention to sex chromosome abnormalities High rate (17.3%). The deformity to routinely perform chromosome karyotyping. Early diagnosis, reasonable treatment, early genetic counseling, for prenatal and postnatal care has an important guiding significance.