Genetic Tests Under Fire

By MICHAEL D. LEMONICK

Spanish hurdler Maria Jose Martinez Patino never doubted her femininity until she arrived in Kobe, Japan, in 1985 to compete at the World University Games. Like all female athletes participating in international tournaments, she had to take a genetic sex-determination test, aimed at preventing men in drag from unfairly competing against women. Though Patino had passed such an exam in the past, she had forgotten to bring along proof. This time, to her amazement, she failed. The first test had evidently been botched. Patino, though clearly a female anatomically, is, at a genetic level, just as clearly a man. She was disqualified.

Every year a handful of women share Patino's fate -- the result of certain genetic anomalies. In Patino's case, and doubtless in many others, the repercussions were devastating and humiliating. Not only was she barred from competing, but she lost an athletic scholarship and watched her boyfriends walk off in confusion.

Gender tests first appeared in 1966, in response to suspicions that muscular, medal-winning East bloc women were really men in disguise. Female athletes had to parade nude before a panel of gynecologists to be certified as women. By 1968, this demeaning practice was abandoned in favor of a more dignified and supposedly more scientific chromosome exam. But no one guessed that it would backfire against women like Patino.

So last year the International Amateur Athletic Federation, which governs track-and-field contests, decided to go back to something closer to the original method: during a routine physical, a team doctor simply and discreetly takes note of an athlete's genitals. In a report in last week's Journal of the American Medical Association, the organization proclaimed its satisfaction with the practice and called upon groups governing other sports to follow suit. Timed to coincide with the Winter Olympics, the report is sure to embarrass the International Olympic Committee, which remains wedded to chromosome testing.

"The big mistake," says Alison Carlson, a tennis coach and member of the I.A.A.F. committee that recommended the new test, "is in the simplistic idea we all learned in high school that chromosomes determine gender." While a Y chromosome ordinarily makes someone a man, explains Dr. Joe Leigh Simpson, a University of Tennessee gynecologist who was also on the I.A.A.F. committee, "about 1 in 20,000 people has genes that conflict with his or her apparent gender." In some cases, the Y chromosome is defective and fails to properly signal the body to produce masculinizing hormones -- or in the case of men who are genetically female, an X chromosome inappropriately signals the body to produce excess testosterone. In instances such as Patino's, male hormones may be present, but the body lacks the proper receptors to respond. Such individuals look female and, significantly for sports, have the size and musculature of a woman; the Y chromosome is irrelevant.

Patino spent three years fighting to regain her female status and won, even before the I.A.A.F. changed its procedures. She hopes to compete in this summer's Olympics, which will be held in her native land. Luckily for her fellow track stars, Olympic officials will now accept an I.A.A.F. certificate of femininity instead of chromosomal proof. But XY women in other sports will be out of luck, unless the International Olympic Committee updates its policy.