In 2016, Danish researchers, for the first time, mapped the number of women who are genetically male, finding the proportion to be higher than anticipated
The Paris Olympics was at the centre of a major controversy after a ‘gender row’ erupted in women’s boxing. Algerian boxer Imane Khelif was accused of being a ‘biological male’, leading her opponent — Italy’s Angela Carini — to withdraw from their match after just 46 seconds.
While Carini apologised on Friday for her post-match behaviour, terming it frustration from her dream of winning the gold “going up in smoke”, social media was already embroiled in debates over Khelif’s gender status amid allegations that she is a man or trans-gender and should be banned from the women’s event. Some global media reports indicated that a test conducted by the International Boxing Association (IBA) had revealed that the Algerian boxer has XY chromosomes [male] and thus did not meet their eligibility requirements.
As the controversy broke, high-profile names, including Elon Musk and author JK Rowling, spoke out against the International Olympic Committee’s (IOC) decision to let Khelif compete in the women’s sport.
Decoding the complex make-up of chromosomes, Dr Ambrish Mithal, chairman and head, endocrinology and diabetes at Max Healthcare, Saket, New Delhi, explained that the media reports indicate that “Khelif has a deficiency in 5-alfa reductase (5-ARD)”. “This means that while she was conceived as a boy with XY chromosomes, the penis, scrotum and testes did not fully develop and at first sight, she looked like a girl and was registered as such.”
Although the specifics of the controversy are still uncertain, the assumed case of being a ‘biological male’ is not unique. In fact, many are born with similar genetic makeup.
In 2016, Danish researchers, for the first time, mapped the number of women who are genetically male, finding the proportion to be higher than anticipated.
They found that of every 1,00,000 live-born females, 6.4 are born and grow up as girls despite having the genetic makeup of males. They and their parents don’t realise unless they hit puberty or try having children.
“As endocrinologists, we do get patients who come up with such a diagnosis,” Mithal told News18 while explaining that “people with ambiguous sexual organs or people who do not hit puberty and realise something is wrong come for help. We help them classify and manage the symptoms.”
Science behind chromosomes
As the science goes, sex chromosomes typically dictate whether an individual is female or male, with women being XX and men being XY.
The Danish study was led by Dr Claus Højbjerg Gravholt, clinical professor at the Department of Clinical Medicine of Aarhus University. In an email conversation, he explained to News18 that “normally we expect a person born with 46,XX karyotype to be a female and a person born with 46,XY karyotype to be a male”.
However, this is not always the case.
“I see mainly patients with disorders or differences of sex development (DSD). For example, I have patients born with 46,XX with a male appearance at birth that only get diagnosed as adults after being married to a female, because they are infertile and are not able to get children.”
Likewise, he added, “I have patients born as females, appearing with normal female genitalia and later diagnosed with 46,XY. For example, they can be diagnosed during puberty when they do not menstruate or later in life when they discover that they are infertile.”
However, this is not the only thing that matters. “One also has to consider the type of gonad a patient has (an ovary or a testis). One also has to take into account what type of hormone is preferentially produced (is it oestrogen or is it testosterone) and is the hormone working properly,” Gravholt said.
For example, he said, some born females with 46,XY produce more testosterone but this does not work properly because the androgen receptor is mutated. Thus, such a person can have testis and a very high level of testosterone, but appear very feminine because some of the not-working testosterone is converted to oestrogen and gives rise to the normal development of breasts and other female attributes.
Why do rules at sporting events need to be more diverse?
According to experts, the issue of categorising athletes based on gender, hormones, or chromosomes is highly complex.
“Testosterone, a key hormone in the controversy related to Khelif, influences muscle mass and strength, but its effects are not uniform across all individuals,” Dr Manish Srivastava, consultant, endocrinologist at Gurugram-based Narayana Hospital, said. “Factors such as receptor sensitivity and hormonal metabolism play a significant role in determining physical performance outcomes.”
The rules regarding testosterone levels state that if the levels are below 5nmol/l, athletes are eligible to compete; if they exceed five, they must reduce with medication.
“However, high testosterone levels are useful for muscle bulk and strength, and reducing them just for 6 months before competing may not be fair. So the use of testosterone levels as the sole criterion has been challenged as the sensitivity of tissues to circulating testosterone may vary. It appears that currently, the IOC determines gender eligibility based on passport details alone- without any tests,”Mithal from Max Hospitals said.
Experts believe the challenge lies in creating fair competition while acknowledging the natural diversity among athletes.
Mithal believes that there should be clearer protocols, such as karyotype testing. “Whether as karyotype (genetic) testing should be part of this testing remains debatable. Controversies like these impact both the individual whose gender is questioned and the opponent who may feel the competition was not fair. There are no simple answers but to me depending on the passport details alone is perhaps inadequate.”
According to Srivastava, instead of strict binary classifications, sports regulations could consider a spectrum approach, where eligibility is assessed based on a range of physiological markers rather than rigid categories.
“Such an approach would better reflect the nuanced nature of human biology and help mitigate potential exclusion or discrimination of athletes with atypical hormonal or chromosomal profiles.”
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