正常睾酮水平伴先心病的克氏综合征1例

Klinefelter's syndrome with normal testosterone level in a patient with congenital heart disease

目的报告1例罕见的正常睾酮水平伴先天性心脏病的克氏综合征(Klinefelter′s syndrome)患者的细胞遗传学特点。方法结合临床资料,采用常规方法制备外周血淋巴细胞染色体,经G显带进行染色体核型分析。结果患者发生性染色体畸变,核型为47,XXY,比正常男性多一条X染色体,体内睾酮水平正常并伴房间隔缺损。结论此患者睾酮水平正常,不同于一般克氏综合征的特点且伴有先天性心脏病,为临床全面认识和准确诊断克氏征提供了新的信息。

Objective To report the cytogeneti characteristics of Klinefelter＇s syndrome with normal testosterone level in a rare patient with congenital heart disease. Methods Lymphocyte chromosomes from peripheral blood were routinely prepared, and their karyotypes were analyzed using G-banding based on the clinical data. Results Chromosome aberration occurred in the patient and its karyotype was 47, XXY. The patient was found to have an additional X chromosome with normal testosterone level and auricular septum defect （ASD）. Conclusion Klinefelter＇s syndrome with normal testosterone level in a patient with congenital heart disease can provide some new information for its recognition and accurate diagnosis.