[Clinical study of fifty cases of Klinefelter's syndrome]

The authors report the clinical manifestations of 50 cases of Klinefelter's Syndrome proven by chromosome studies. The number of cases with the genotype of 47 XXY, 46 XY/47 XXY, 46 XX/47 XXY and 48 XXXY were 42, 6, 1 and 1 respectively. The chief complaint of 68% of the patients was maldevelopment of sex and that of 26% was gynecomastia. One fourth of the patients was born when their mothers' age already exceeded 35. About 1/5 had low intelligence. Secondary sexual characteristics were absent in all the patients. About 2/5 had gynecomastia. The average testicular volume was 4.0-1.3 ml, but no sperm was found in their semen. Their serum testosterone concentration decreased to 5.4 +/- 5.3 mM/L, but the serum TeBG, FSH and LH levels were significantly increased to 66.8 +/- 22.0 nM/L, 24.7 +/- 7.1 IU/L and 12.3 +/- 7.3 IU/L.