Medicine & Science in Sports & Exercise:
Special Report: Commentary to Accompany
Puffer, James C. M.D.
The International Olympic Committee (IOC), at its 109th Session in Seoul, Korea, in June of 1999, conditionally accepted the recommendations made six months earlier to the IOC Executive Board by the IOC Athletes’ Commission to discontinue gender verification at the Olympic Games. In this issue of Medicine and Science in Sports and Exercise®, Dickinson and colleagues, writing on behalf of the Council on Scientific Affairs of the American Medical Association, provide strong scientific support for permanently abolishing gender verification at the Olympic Games (1). This is consistent with organized efforts over the past 15 years by numerous scientific and athletic bodies to encourage the IOC to permanently discontinue gender verification at all Olympic Games.
The entire gender verification process has been particularly degrading to female athletes. The first tests were employed at the European Track and Field Championships in 1966 and the Pan American Games in 1967. At these events, women were paraded unrobed in front of a panel of physicians who confirmed their sex. As a result of the outcry that resulted from these procedures, the IOC adopted sex chromatin testing as an objective measure for gender verification, and it was introduced at the Mexico City Olympic Games in 1968. This test, which examined the cells taken from a smear of cells collected from the buccal mucosa of female athletes, attempted to detect the presence of a Barr body that is formed after inactivation of one of the two X chromosomes in female cells. The presence of a Barr body “confirmed” female sex, whereas its absence suggested that the competitor was a male.
Sex chromatin testing fell out of favor of most physicians and scientists shortly after the IOC introduced it. Many female competitors were unfairly disqualified, because the test failed to account for phenotypic females with male sex chromatin patterns seen in conditions such as androgen insensitivity syndrome or XY gonadal dysgenesis. Although provisions in the IOC Medical Code provided for careful review and physical examination to corroborate the results, most women with abnormal tests opted to “retire” or forgo further assessment to avoid public scrutiny and potential publicity (4). A notable exception was Maria Martinez Patino, a Spanish hurdler with complete androgen insensitivity syndrome raised as a female, who publicly scathed sports authorities for their mistreatment and abuse (6).
In response to the limitations imposed by sex chromatin testing and its growing obsolescence in most all major cytogenetic laboratories, the IOC replaced it with the polymerase chain reaction (PCR) for the Y-linked gene SRY (sex-determining region Y). This test amplified DNA from buccal cells so that the SRY gene, a testis determining gene, could be detected on the Y chromosome. Championed by Dingeon et al. (2), this test was introduced at the 1992 Albertville and Barcelona Olympic Games and continued until the Sidney Games in 2000. Although the test is 99% accurate, technical limitations do exist as elegantly demonstrated by Serrat and Garcia de Herreros in their analysis of data from the Barcelona Games in 1992 (5). However, it is important to note that those athletes detected by this new technology are those who have medical conditions that would not confer unfair advantage on the playing field. In Atlanta in 1996, this new technique identified eight female athletes who were SRY positive. Seven of these had androgen insensitivity syndrome, and the other was a gonadectomized woman who most likely had a 5-alpha-reductase deficiency (3).
It is important to note that to date neither sex chromatin nor SRY testing has detected a male masquerading as a female competitor at any Olympic or international sporting event. No matter how sophisticated new cytogenetic techniques become, they cannot circumvent the issue of phenotypic females who have male genotypes but who have conditions that confer no significant athletic advantage. Given this, it is the appropriate time for the permanent abolishment of laboratory testing for purposes of gender verification while retaining those elements of the IOC Medical Code that provide for physician assessment of gender in a specific competitor should suspicion arise. Given my personal experience, this would avoid the humiliating and embarrassing circumstances that always surround a “positive” test and the unpleasant aftermath that follows.
1. Dickinson, B. D., M. Genel, C. B. Robinowitz, P. L. Turner, G. L. Woods. Gender verification of female Olympic athletes. Med. Sci. Sports Exerc. 34: 1539–1542, 2002.
2. Dingeon, B., P. Hamon, M. Robert et al. Sex testing at the Olympics. Nature 358: 447, 1992.
3. Elsas, L. J., R. P. Hayes, and K. Muralidharan. Gender verification at the centennial Olympic games. J. Med. Assoc. Ga. 86: 50–54, 1997.
4. Puffer, J. C. Gender verification: a concept whose time has come and passed? Br. J. Sports Med. 30: 278, 1996.
5. Serrat, A., and A. Garcia de Herreros. Gender verification in sports by PCR-amplification of SRY and DYZ1 Y-chromosome sequences: presence of DYZ1 repeat in female athletes. Br. J. Sports Med. 30: 310–312, 1996.
6. Simpson, J. L., A. Ljungqvist, M. A. Ferguson-Smith et al. Gender verification in the Olympics. JAMA 284: 1568–1569, 2000.