Study on the extra X chromosome＇s effect on the hormone level of Klinefelter＇s syndrome  

作　　者：TU Zhi-ming HONG Hui-li SONG Jie 

机构地区：[1]School of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China Medical Biochemistry Department, School of Medicine, Flinders University, Adelaide SA5001, Australia [2]The Third Hospital of Wuhan 430060, China [3]Centre for Advanced Technologies in Animal Genetics and Reproduction ,Faculty of Veterinary Science, University of Sydney, NSW 2570, Australia

出　　处：《Journal of Life Sciences》2007年第1期7-13,共7页生命科学（英文版）

摘　　要：Klinefelter＇s syndrome is an inherited （genetic） disorder found only in men caused by at least one extra X chromosome in a cell. Does the extra X chromosome have any effect on the hormone level of Klinefelter＇s Syndrome？ In this paper, 25 subjects with Klinefelter＇s syndrome, 30 infertile subjects and 36 normal men without Klinefelter＇s syndrome were compared each other in endocrinology profile and cytogenetics. Subjects with Klinefelter＇s syndrome were identified by the karyotypes 47, XXY or 47, XXY/46XY, and positive of the X-chromatins （Barr bodies）. Hormone analysis of subjects with Klinefelter＇s syndrome showed that the testosterone （T） values were lower than those of the normal subjects, while the FSH and LH values were higher than those of the normal people; in the infertile experiment subjects without Klinefelter＇s Syndrome, the karyotypes are 46, XY, with negative of the X-chromatins. The testosterone （T） values of these subjects were also lower than those of the normal people, but the FSH and LH values were within the normal range. These results indicated that endocrinological test on infertile subjects can be used to determine whether a cytogenetic analysis is necessary, and hence exclude non- Klinefelter＇s syndrome. The mechanism of the occurrence of this difference, its clinical applications and the relationship among the karyotypes, the endocrinological test and the severity of the phenotype are discussed. Lyon＇s hypothesis stating that only one of the two X-chromosomes is genetically active in female cells, but our study concluded that the extra X chromosome do have effect on the hormone level of Klinefelter＇s Syndrome.

关 键 词：Klinefelter＇s syndrome HORMONE X-CHROMOSOME Barr body 

分 类 号：Q987[生物学—遗传学] X503.225[生物学—人类学]