Syndrome Produced by Absence of the Germinal Epithelium Without Impairment of the Sertoli or Leydig Cells

THE classification of abnormalities of the endocrine and spermatogenic functions of the testes is improving. Until a few years ago, the subject was extremely confused, largely as a result of the inadequacy of the methods of study. Histological studies of testicular biopsies and assays of urine for various hormones has made it possible to isolate several syndromes in which the testicular pathology is the primary abnormality. The present paper gives the clinical, anatomical, and biological characteristics of a new testicular syndrome. Evidence of the existence of a second testicular hormone is strengthened by the observations reported and a specific function for the Sertoli cells is established. Before discussing this new syndrome, it will be helpful to mentionbriefly three relat ed syndromes. In 1942 Klinefelter, Reifenstein, and Albright (16) (see Table I) described a syndrome characterized by gynecomastia, aspermatogenesis without aleydigism, and increased excretion of follicle-stimulating hormone (to be designated hereafter as F.S.H.) They presented nine cases. Testicular biopsies showed hyalinization of all, or nearly all, of the tubules. The pathologic process involved the germinal cells as well as the cells of Sertoli. There appeared to be an increase in the number of Leydig cells but this appearance was probably accounted for by the shrinkage of the tubules. The testes were small and soft and the patients, of course, were sterile inasmuch as the semen showed azoospermia. F.S.H. was excreted in the urine in excessive amounts in all the patients and to a degree comparable to that found in castrates. All patients presented bilateral gynecomastia. The estrin excretion was studied in two cases and found to be within normal limits.