CONSIDERABLE knowledge has been accumulated concerning the factors affecting sex differentiation in vertebrates. In man, however, most of our information is inferential, based largely on the observations experimental embryologists in other species. Controversy and debate have focused principally on the relative role of genetic influences and the embryonic gonads in the differentiation of the genital ducts and the external genitalia. The demonstration by Jost in the rabbit (1), and Raynaud and Frilley in the mouse (2), that early removal or destruction of the fetal gonads led invariably to female development of the ducts and genitalia, emphasized the importance of the embryonic testes in counteracting the inherent tendency of the fetus to feminize. Individuals with the syndrome of “ovarian agenesis” had always been considered to be females. In 1950 Wilkins (3) and Jost (4), recognizing the clinical significance of these animal experiments, predicted that some patients with this disorder should be chromosomal males.
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Grumbach et al. (1955) studied this question.