[Clinical, endocrinological, histological and chromosomal investigations on Klinefelter's syndrome]

In a clinical study 101 patients with Klinefelter's syndrome (Kl. sy.) are evaluated. Clinical, endocrinological and histometrical aspects were of main interest. The results were compared with a group of patients with azoospermia by obstruction. The statistical evaluation showed significant differences concerning body-height, volume of ejaculate, size of testis, and the concentration of FSH and LH in serum. Histometrical investigations showed significant differences for the diameter of seminiferous tubules and their wall-thickness. The various degrees of Leydig-cell-increase at Kl. Sy. are described as--increased--excessively increased--and adenomalike. Sex-Chromatin was found positive in 62 of 64 cases of Klinefelter's syndrome, verified by chromosome analysis. The number of Barr-bodies ranged from 1-45 (200 cells evaluated) x mean was 9,6. The analysis of chromosomes in 64 cases showed a karyotype of 47,XXY in 59 cases, a 46, XY/47,XXY mosaic in 4 cases and 46,XX/46,XY/47,XXY mosaic in 1 case. The discussion pointed out, that Kl. sy. has no typical, but a variety of symptoms. The position of the evaluation of sex-chromatin for diagnosis and the possibilities of errors are discussed. The problem of fertility in Kl. sy. is mentioned, as we found two cases with complete spermatogenesis, yet with azoospermia, among our patients. The pathogenesis of the characteristical histological changes in testis with Kl. sy. remains open. The mechanism which may lead to the striking increase of Leydig-cells is discussed.