Bilateral Anorchia with Persistent Testosterone Production

Two 19-year-old patients had bilateral anorchia, normal male phenotype and 46, XY karyotype, spontaneous but incomplete pubescence and eunuchoidal appearance, with high urinary excretion of gonadotrophins. In both, the concentrations of testosterone in spermatic-vein blood was 10 to 50 times greater than that found in peripheral blood, although laparotomy revealed no testicular tissue. In spite of absent testes, both patients had a source of testosterone-secreting tissue, presumably Leydig cells. This tissue apparently had sufficient function to result in normal male differentiation in utero, and to produce some signs of pubertal development.