VARIANTS OF EMBRYONIC TESTICULAR DYSGENESIS: BILATERAL ANORCHIA AND THE SYNDROME OF RUDIMENTARY TESTES

Abstract

Three groups of patients, all of whom had chromatin-negative buccal smears are reported. The chromosomes were XY in the 5 cases in which studies were made. Group A (Syndrome of rudimentary testes) consisted of 4 patients with exceedingly small rudimentary testes who showed no abnormality of male sex differentiation except for a very minute penis. The testes were composed of scanty, small testicular tubules, containing pre-Sertoli cells and some spermatogonia. Foetal Leydig cells were present. Group B consisted of 4 patients with incompletely masculinized external genitalia and normal male gonaducts but in addition there was persistence of Mullerian elements in all cases, with an infantile uterus in two cases. These findings were similar to those of male pseudohermaphrodites; but careful surgical exploration with extensive microscopic sections revealed no gonadal tissue. Small nodules were present consisting only of fibrous tissue and in three cases a small clump of cells resembling either aberrant adrenal cells or Leydig cells. It is possible that these patients were male pseudohermaphrodites who had had defective testes in early embryonic life which had degenerated later. Group C (Bilateral Anorchia) consisted of 4 patients of adolescent or adult age whose sex organs were entirely male. Testes had never been palpated. They failed to develop secondary sexual characteristics at puberty and they grew tall with eunuchoid proportions. Careful surgical exploration revealed no gonads in either the inguinal canals or the abdomen. The vasa deferentia were traced to their ends and were found to end blindly or in rudimentary epidydimes. Accordings to the theory of Jost functioning testes must have been present in the stage of embryonic sex differentiation and degenerated later. The selection of the sex of rearing is discussed and it is pointed out that the patients of Group A and B have a phallus so small that they can never function adequately as males. Accordingly it is better that they be assigned the female gender in early infancy. This opinion is confirmed by the fact that two patients of Group B who were raised as males and treated with testosterone were psychologically very badly maladjusted and in adult life decided to change to the female role.