Spermatogenesis in Klinefelter's syndrome

Abstract

The results of a study of seminal fluid, chromosomal formula and testicular tissue performed on 32 patients with Klinefelter's syndrome are presented. The significance of the microscopic study of seminal fluid in this syndrome is well emphasized. The possible relationship of the histological pattern to spermatogenic function and chromosomal constitution is discussed. Our conclusions are that most patients were azoospermic and the the volume of the ejaculate was low or absent. The decreased density of seminal fluid was the result of the absence of spermatozoa. The seminal pH remained normal during the study. Finally, we consider that cases showing areas of spermatogenesis with spermatozoa might correspond to a gondal mosaicism we have failed to diagnose.

PIP: The results of an analysis of seminal fluid, chromosomal formula, and testicular tissue performed on 32 men (including 2 prepubertal boys) with Klinefelter's syndrome are presented. 11 patients failed to yield any seminal fluid, and in 12 patients the seminal volume was less than 2 ml. Seminal density was normal in 50% of cases and diminished in the remainder. Azoospermia was noted in 20 cases, aspermia in 11 cases, and oligospermia in 1 case. Histologic study revealed tubular hyalinization and complete lack of cells involving most seminiferous tubules in 20 patients. A nuclear chromatin study revealed a positive pattern in 31 of the 32 patients. Karotype determination showed a 47,XXY formula in 15 of 16 patients studied. The low volume of ejaculate noted in the majority of these men suggests a severe hypoandrogenism and atrophy of the sex accessory glands. The presence of small amounts of fructose in the semen of these patients reaffirms the existence of a certain degree of androgenic function in Klinefelter's syndrome. Small areas of spermatogenesis were also observed in this series, suggesting the possible existence of an XY cellular line in the gonads whose action permits a certain amount of development of the germinal epithelium. Fertility is possible in some such cases. This syndrome is thought to be present in a latent form during early life, until the arrival of puberty brings about testicular alterations. Both prepubertal boys in this series showed immature tubules, populated almost exclusively by undifferentiated cells resembling presertolian cells.