THE HEREDITARY OCCURRENCE OF TESTES AND ABSENCE OF SEXUAL HAIR IN AMENORRHEIC WOMEN: A TYPE OF PSEUDOHERMAPHRODITISM*

Abstract

HERMAPHRODITISM has intrigued man from time immemorial. Innumerable references to the subject have appeared in both medical and nonmedical literature. Although the great majority of such cases are quickly recognized by the bizarre anomalous features of the external genitalia, they are not easily classified. A particular type of intersexuality represented by the cases reported in this paper has, for the most part, been unsuspected on clinical examination, and the diagnosis has usually not been made until surgery has been performed, or the condition has been discovered at autopsy. We refer to a special type of male pseudohermaphroditism, with normal-appearing external female genitalia and a completely feminine habitus. Evidence of masculinity is lacking, despite the presence of male gonadal tissue. In this article we present our conception of adequate clinical criteria for a positive diagnosis. There can be, of course, all gradations of male pseudohermaphroditism; it is seen in patients having entirely feminine external features, as well as in those with masculine features. However, we shall limit the discussion entirely to cases which we believe are representative of this syndrome and shall exclude from consideration all other forms of intersexuality. There are examples of pseudohermaphroditism in which the outward characteristics of femininity approach those seen in this particular syndrome, but these have not been included because of the varied external features, such as a hypertrophied penile clitoris, absence of breast development, and testes located in the labia majora or in a bifid scrotum.