Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis |
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| Authors: | F. Waibel G. Scherer M. Fraccaro T. W. J. Hustinx J. Weissenbach J. Wieland Antonia Mayerová Elke Back U. Wolf |
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| Affiliation: | (1) Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, D-7800 Freiburg i. Br., Federal Republic of Germany;(2) Istituto di Biologia Generale e Genetica Medica, University of Pavia, C.P. 217, I-27100 Pavia, Italy;(3) Anthropogenetisch Instituut, Katholieke Universiteit Nijmegen, Geert Grooteplein Zuid 20, NL-6525 GA Nijmegen, The Netherlands;(4) Institut Pasteur, 28, rue du Dr. Roux, F-75724 Paris Cedex 15, France;(5) Universitäts-Kinderklinik, Universitätsstrasse 1, D-4000 Düsseldorf, Federal Republic of Germany;(6) Present address: Friedrich-Miescher-Institut, Postfach 2543, CH-4002 Basel, Switzerland |
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| Abstract: | Summary A search for Y-specific DNA sequences has been performed in a sample of seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case and compared with a sample of 11 XX males. Using six Y-specific DNA probes no hybridization signal was obtained in the hermaphrodite group; in contrast, all XX males gave a positive signal with at least one probe. This difference is statistically highly significant. We conclude that the aetiology of true hermaphroditism is different from that of the XX male syndrome. As all cases of the hermaphrodite group are positive for the serological sex-specific antigen (Sxs) it is concluded that this antigen can be present even in the absence of Y-specific DNA. |
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