| >> Result Summary: "Abnormal" >> Interpretation: "Chromosomal analysis reveals Male karyotype." >> A karyotype means an individual's complete set of chromosomes. Females have XX chromosomes, males XY. The last line is an oversimplification that the author, as many others, uses to jump to conclusions. As the BBC article reports, quoting Alun Williams: >> “It’s obviously a very good marker, as most people with a Y chromosome are male… but it’s not a perfect indicator.” >> For some people with DSD, the Y chromosome is not a fully formed typical male Y chromosome. It may have some genetic material missing, damaged or swapped with the X chromosome, depending on the variation. Also, something that's been a bit annoying throughout this affair: a "male karyotype" is not "XY", it's "46, XY" and a female karyotype is "46, XX". At least that's the normal male/ female karyotypes and some people with DSDs have variations thereof, like the 47, XXY karyotype of Kleineflter's Syndrome (a "trisomy"). In any eventuality, as the BBC article says, a male karyotype does not a male make, let alone a man. As a for instance, this is an article that reports natural birth in a woman with predominantly 46, XY karyotype: Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2190741/ This was a case of a woman with mosaicism, which means some of her cells had one set of chromosomes and other cells another. The karyotype of her ovaries was predominantly 46, XY, i.e. what the pundits keep calling "male" and less than 1% 46, XX, i.e. "female", by the pundits. And yet, not only did she menstruate regularly, she had two unassisted pregnancies and gave birth to a daughter. Imagine now if this woman was an athlete who had failed a gender test for having "XY chromosomes" as widely reported for the two Olympic boxers. A woman who has given birth is a male and should be competing in a men's category? How does that square with anything anyone knows or believes about gender or sex? It is because of this kind of situation that is not unheard of and is not that rare in the grand scheme of things that the scientists in the BBC article, as well as the IOC, find it so difficult to say with certainty what is a man and what is a woman. Because despite what we all think we know, when we reach the limits of physical conditions, as is common in sports, the limits begin to become a blur. |
Like for example, Swyer syndrome is an XY DSD where the individual has a female phenotype (including uterus, fallopian tubes, and vagina) but complete gonadal dysgenesis. No ovaries or testes. Because of oestrogen deficiency, such individuals end up with a very high risk of bone defects including osteopenia and osteoporosis - which is not compatible with competitive sport.
Even with CAIS, an XY DSD where the body cannot process testosterone at all so despite presence of testes the individual develops an otherwise female phenotype, has a curiously higher incidence in athletes competing at an elite level, compared to the average within the general population: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643412
> although they are likely to be taller than the average 46,XX woman given some height-determining genes on the Y chromosome and perhaps some that increase lean body mass. Mutation of this gene is found in fewer than 1 in 20,000 in the general population but is relatively common in elite female athletes [noted as 1/421 and 1/423 at the 1996 Atlanta Olympic Games].
The case of mosaicism you linked is fascinating but also incredibly rare, even more so than other DSDs. Also it almost certainly doesn't apply to these two boxers because it would have been picked up on the karyotyping, as it was in that paper.
I feel that the BBC article was quite enlightening on the topic of DSDs in general, but not so much on the impact of and presence of specific male DSDs in women's sport at an elite level. Sport provides a selection filter so these skew towards the subset that confer performance advantage. Like, 5-ARD has dominated entire podiums: in the Women's 800m of the 2016 Olympics, every medal was taken by a male.
That said, I see this as a policy failure more than anything. The IOC's policy fails women by not attempting to exclude male physical advantage at all, instead just going by whatever an athlete's identity documents say. They prioritise inclusion of male athletes in the women's category more than fairness and safety for female athletes.
This is in contrast with how they police their other eligibility criteria, like weight classes where this is verified at the event by weigh-ins. It's strict, too: an athlete was disqualified in this Olympics for being 100 grams over.
I believe the IBA's process, even though they prioritised the safety of their female athletes and fairness in competition, was also flawed. They should have taken the XY karyotype results as the start of their investigation instead of the end. Though, neither Khelif nor Lin pursued a case against the the IBA's decision at the CAS. Which says a lot too.