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摘要: 目的：：通过对本地区491例隐匿性阴茎患儿进行细胞遗传学分析，以了解此类患儿性染色体异常情况及所伴染色体病特点，为临床诊治提供资料。方法：回顾性分析本院2017年5月—2019年7月临床诊断为隐匿性阴茎的491例患儿的细胞遗传学资料。结果：在491例隐匿性阴茎患儿中，共发现性染色体异常9例，异常检出率为1.83%。其中克氏综合征患儿共7例，占总体异常检出率的77.78%，检出超雄综合征患儿1例，占总体异常检出率的11.11%，另检出男性特纳氏综合征患儿1例，占总体异常检出率的11.11%。结论：隐匿性阴茎是一种先天发育异常及常见的阴茎畸形性疾病，部分此类患儿可合并有性染色体异常，最多见的是克氏综合征，细胞遗传学手段能够明确隐匿性阴茎患儿是否伴有染色体病。对于伴有染色体病的此类患儿，不仅要及时采用手术治疗隐匿性阴茎，也应及早发现并诊疗染色体病，另外遗传咨询及健康教育对于伴染色体病的隐匿性阴茎患儿的生长发育及预后具有重要意义。Abstract: Objective: To describe the sex chromosome abnormalities and the characteristics of chromosomal disorders in 491 children with concealed penis, and to provide data for clinical diagnosis and treatment.Methods: The cytogenetic data of 491 children with concealed penis clinically diagnosed in our hospital from May 2017 to July 2019 were retrospectively analyzed.Results: Among 491 children with concealed penis, 9 cases of sex chromosome abnormalities were found, and the abnormal detection rate was 1.83%. Among them, there were 7 children with Klinefelter syndrome, accounting for 77.78% of the total abnormal detection rate, 1 child with supermale syndrome, and 1 child with male Turner's syndrome, accounting for 11.11% of the total abnormal detection rate, respectively.Conclusion: Concealed penis is a kind of congenital dysplasia and common penile malformation disease. Some of these children may have sex chromosome abnormalities, and the most common is Klinefelter syndrome. Cytogenetic methods can determine whether concealed penis children have chromosomal disorders. For such children with chromosomal disorders, not only should surgery be used to treat concealed penis in time, but also chromosomal disorders should be detected and diagnosed as early as possible. In addition, genetic counseling and health education are of great significance for the growth, development and prognosis of concealed penis children with chromosomal disorders.
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Key words:
- concealed penis /
- cytogenetic analysis /
- child patient
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