Klinefelter's syndrome (a study on 1067 cases of male genital abnormalities)
Chuang, S.M.; Chiang, W.H.; Tu, C.C.
Journal of the Formosan Medical Association 84(1): 41-52
1985
ISSN/ISBN: 0371-7682 PMID: 3858430 Document Number: 266143
For investigating the chromosomal conditions in patients of male genital abnormalities, 1067 cases including sterility (645 cases), hypogonadism (127 cases), cryptorchidism (87 cases), gynecomastia (50 cases), hypospadia (141 cases) and miscellany (17 cases) were selected for study, from 3975 cases submitted. Chromosomal abnormalities were found in 166 out of 1067 cases (15.6%). These 166 cases including 95 out of 645 cases of sterility, 44 out of 127 cases of hypogonadism, 4 out of 50 cases of gynecomastia, 11 out of 141 cases of hypospadia and 9 out of 17 cases of miscellany. Most of the chromosomal abnormalities were sex chromosomal abnormalities. Cases (166) of chromosomal abnormalities included 164 cases (98.8%) of sex chromosomal abnormalities and 2 cases of autosomal abnormalities. Among 164 cases chromosome abnormalities, Klinefelter's syndrome was most frequent and was found in 151 cases (92%). The karyotype of these 151 cases of Klinefelter's syndrome were: 125 cases of pure form including 122 cases of 47, XXY, 2 cases of 48, XXYY and one case of 49, 4XY. Cases (26) of mosaic form including 23 cases of 47, XXY/46, XY, 2 cases of 47, XXY/46, XX and 1 case of 47, XXY/46, XY/46, XX. Two cases of autosomal abnormalities were translocation including 1 each case of 45, XY, -D, -G, +t(DqGq) and 45, XYq+, -D, -D, +t(DqDq). The main clinical sign or symptom in sex chromosomal abnormalities were sterility and/or hypogonadism, and were seen in 91.2% of pure form and 64.5% of mosaic form. The abnormal length of Y chromosome was found in 60 cases including patients of sterility, hypogonadism, hypospadia, gynecomastia, and cryptorchidism. Long Y (Yq+) was most frequent and seen in 52 cases (86.7%), small Y (Yq-) was less frequent and seen in 5 cases (8.3%).