CHROMOSOMAL SEX IN GONADAL DYSGENESIS (OVARIAN AGENESIS): RELATIONSHIP TO MALE PSEUDOHERMAPHRODISM AND THEORIES OF HUMAN SEX DIFFERENTIATION*†

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Abstract
Twenty of 22 patients with so-called "ovarian agenesis" were found to be chromosomal males. Be-cause of this observation and the histologic appearance of the vestigial gonads, the name gonadal dysgenesis is advocated. A case of gonadal dysgenesis with phallic enlargement, and a case of unusual male pseudohermaphrodism are described, represent-ing links between gonadal (testicular) dysgenesis and the classic varieties of male pseudohermaphrodism. Anatomic findings are comparable to those in fetal castration experiments in animals at various stages of embryonic sex differentiation. This indi-cates the essential role of the fetal testis in human sex development, and explains the female-type genital system found in chro-mosomal males with gonadal (testicular) dysgenesis. A classi-fication of ambisexual development in chromosomal males is pre-sented, based on varying degrees of fetal testicular insufficiency. Chromosomal males with gonadal dysgenesis should be regarded as the most severe and extreme form of male pseudohermaphro-dism. In 5 patients under 6 years of age, the finding of a male chromatin pattern established the diagnosis of gonadal dysgene-sis at an age, in our experience, before urinary gonadotropin can be detected. A female chromatin pattern does not exclude the diagnosis at any age. It is suggested that gonadal dysgenesis is due to a deleterious agent affecting the embryo before the 8th-9th week of gestation.