KLINEFELTER'S SYNDROME: A STUDY OF 5 CASES: HISTOPHYSIOLOGIC BASIS FOR A PATHOGENIC INTERPRETATION*

Abstract

KLINEFELTER, Reifenstein and Albright (1) were the first to describe this syndrome of testicular deficiency, which apparently starts at puberty and involves the whole testis. The chief clinical, humoral and histologic characteristics which they noted were: 1) small testes, the size of a chickpea or medium-sized grape, localized in a normally developed scrotum; 2) onset at puberty; 3) azoospermia, or very few spermatozoa present in the semen; 4) an increase in the urinary excretion of hypophyseal gonadotropins; 5) a testicular histologic pattern which shows disappearance of the germ cells (few spermatogonia can be seen), hyalinization of the tubules and morphologic alterations of the Leydig and Sertoli cells; 6) gynecomastia appearing at puberty; 7) usually a reduction in the urinary excretion of neutral 17-ketosteroids, although in some cases it is normal; and 8) usually no clinical manifestations of androgenic deficiency. Later, Heller and Nelson (2) demonstrated in similar cases that gynecomastia is not always present and that the Leydig cells show various abnormalities (Nelson and Heller (3)). In a recent publication, Howard, Sniffen, Simmons and Albright (4) included in this syndrome cases with and without gynecomastia, and accepted the existence of alterations in the Leydig cells.