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

Objective To report the cytogeneti characteristics of Klinefeltes’r 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.