Four female athletes suspected of doping by the Olympic Committee were found, after analysis of their chromosomes, to be men. These women actually have a rare disease.
The world of Olympism soon affected by a new scandal? Possible, four female athletes suspected of doping by the International Olympic Committee (IOC) were indeed revealed, after analysis of their chromosomes, to be men. The astonishing conclusion comes to us from a joint study at the University Hospital of Montpellier and Nice, and will soon be published by the Journal of clinical endocrinology, leading scientific journal.
Charles Sultan’s team (department of hormonology and pediatric endocrinology-gynecology unit) in Montpellier, and that of Patrick Fenichel (endocrinology department) in Nice, recently studied, at the request of the IOC, the cases of four high-level sportswomen suspected of doping due to a very high level of testosterone (the male hormone) in the blood and an abnormally large muscle mass. After analyzes, the chromosomal profile (karyotype) of these sportswomen was found, in each case, to be typically male. So, “some of these high performance athletes may have genetic abnormalities incompatible with their selection for women’s championships,” the report concludes. Indeed, although having all the exterior physiological traits characteristic of female individuals, these athletes are genetically male. They actually suffer from a genetic disorder that is particularly rare in women, the “5 Alpha Reductase” enzyme deficiency.
And the researchers recognize it, “any deficit in the production of this enzyme leads to a drastic decrease in the expression of male sexual characteristics”. People with this deficit may have their external genitalia either developing normally, ambiguously (extremely developed clitoris or very small penis), or not developing. In the latter case, female sex organs will develop, with the testes – which continue to produce testosterone – remaining inside the body. It is a recessive genetic disease, which means that it can only appear if each of the parents has passed the defective gene to the child. In fact, the syndrome has a higher probability of appearing among populations with a high rate of consanguinity (island areas, isolated regions). In France, only about twenty cases have been identified.
The International Association of Athletics Federations (IAAF) invokes “a necessary protection of champions”, of which it would not like to see any “element which could lead to their identification” communicated. The names of the athletes concerned will therefore not be revealed to the public. The issue of gender differentiation in athletes is a recurring story in the world of women’s sport. With as a precedent known in the history of the Olympic Games, that of the Dutch Foekje Dillema, champion of the 200 meters in 1950. The athlete was confused years later, when in 2008, a DNA test concluded that this sportswoman had a mixture of X and Y chromosomes. Yet her morphological appearance gave her all the attributes of a woman.
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