Abstract

Genetic-based laboratory testing of female athletes who compete in women-only events was instituted in the late 1960s to replace the degrading alternatives of having to parade nude before panels of judges or endure close genital inspection. Testing seemed both appropriate and fair in a cold-war era during which the sex of some successful female athletes was being questioned, and the buccal smear—then a fairly new cytological test that depends on condensation of one of two X chromosomes—was not terribly difficult to administer. Those who proposed the idea could not have foreseen the consequences or the subsequent explosion in numbers of women athletes that would ensue over the next 30 years. Undoubtedly, the increasing popularity of women’s sports contributed to the desire to maintain a level playing field, as was described in 1972 by Eduardo Hay, a member of the International Olympic Committee’s Medical Commission. Procedures were, therefore, defined that included full clinical assessment of female athletes detected without two X chromosomes who wanted to continue to compete. Most, however, preferred either to feign injury or to retire than to subject themselves to the inevitable publicity and public scrutiny. A shame, since, as pointed out by Finnish geneticist Albert de la Chapelle in 1986, buccal smears were technically unreliable and detected athletes with genetic disorders, such as androgen insensitivity syndrome and gonadal dysgenesis, who were undeniably female. Paradoxically, the test would have permitted men with Klinefelter’s syndrome or XX males, who have a portion of the testicular determining gene (SRY) transposed onto the X chromosome, to compete.

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