HWN Suggests

Women with XY Chromosomes and the Debate in Sports

Understanding gender diversity is crucial in today’s modern world. A notable example is the global controversy surrounding the 2024 Olympic women’s boxing competition, where it was discovered that a female athlete with male XY chromosomes could compete against women with XX chromosomes. This sparked widespread criticism and debate worldwide.

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 XY DSD

With Swyer Syndrome, baby is conceived with XY chromosomes. But sometimes the SRY gene is missing/broken, or sometimes other genes that SRY hooks up with are missing/broken. This means that this XY baby cannot complete testes development. It doesn’t make ovaries instead, it effectively makes nothing, or maybe a weeny bit of residual, immature testes tissue. Crucially, with no testes making testosterone, Swyer syndrome doesn’t include the typical aspects of male development that are relevant for sport. Babies don’t masculinise in any hormone-driven way (although people with Swyer are a little taller than females). So individuals with Swyer are included, without sanction or question (at least in current regulations), in female sport.

Articles of Interest

Androgen insensitivity syndrome

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition have one X chromosome and one Y chromosome in each cell, which is typical for males. In people with androgen insensitivity syndrome, the body's cells and tissues are unable to respond to certain male sex hormones (called androgens) that are important for normal male sexual development before birth and during puberty. As a result, affected individuals may have external sex characteristics that are typical for females or have features of both male and female sexual development.

More Women Than Expected Are Genetically Men

Sex chromosomes usually determine whether you are female or male. Women are XX. Men are XY. However, genetically, a few women are actually men. They grow up as women with a woman’s body, and most only discover well into puberty that they are different. Danish researchers map for the first time how many women are genetically men. The proportion was higher than expected.

Raised female — but the genes say XY

Maria Martinez-Patino knows the issue firsthand. A world-class athlete, she was raised and looked like a normal female and even received the needed “certificate of feminity” to participate in the 1983 World Track and Field Championships in Helsinki, Finland. In 1985 at the World University Games in Kobe, Japan, her test came back with an XY and she was not allowed to compete. Martinez-Patino had androgen insensitivity, meaning she didn’t respond to testosterone. That meant she also didn’t have a competitive advantage from having an XY chromosome.

Swyer syndrome

People with Swyer syndrome, however, have an XY genetic makeup, or genotype, but develop a vagina, uterus, and Fallopian tubes instead of a penis and scrotum. This is referred to as a sex reversal, which is also evident in their overall physical appearance, also refered to as phenotype, resulting in unambiguous female external genitalia.

Swyer Syndrome - What Is It, Causes, Diagnosis, Treatment, and More

Swyer syndrome, also known as 46 XY complete (pure) gonadal dysgenesis (CGD), is a rare congenital disorder of sex development. It is characterized by the failed development of the sex glands (i.e. testicles or ovaries). Usually, the human genotype is made up of 46 chromosomes: 22 pairs that make up the autosomal chromosomes and a 23rd pair of sex chromosomes which determine the assigned sex of a newborn. If the sex chromosomes have an XX genetic makeup, they usually lead to the development of a vagina, uterus, and fallopian tubes; an XY genetic makeup, on the other hand, usually leads to the development of a penis and scrotum. People with Swyer syndrome, however, have an XY genetic makeup, or genotype, but develop a vagina, uterus, and Fallopian tubes instead of a penis and scrotum. This is referred to as a sex reversal, which is also evident in their overall physical appearance, also refered to as phenotype, resulting in unambiguous female external genitalia.

Swyer Syndrome: A Look into Women with a Y-Chromosome

Swyer Syndrome refers to a chromosomal disorder in which a genetic male has a dysfunctional Y-chromosome. Specifically, the parts of the Y-chromosome which control the development of male genitalia are unable to function. As explained before, all fetuses will be female by default, unless a Y-chromosome is present. If the Y-chromosome is unable to actually alter the development of the fetus, however, the fetus will remain a female despite having a Y-chromosome.

Swyer syndrome: The gender swayer?

46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development (DSD) first described by Gim Swyer in 1955 where a 46-XY subject presents with internal and external female genitalia, normal or little mammary development and primary amenorrhoea, without clinical stigmata for Turner syndrome.

The Mysteries of Primary Amenorrhea: Swyer Syndrome

Swyer syndrome is a hereditary condition seen in a few patients who present with primary amenorrhea, characterized by 46 XY and the presence of female internal genital tract and bilateral streak gonads in a female phenotype

The XY female

Swyer syndrome was first described by Swyer in 1955 and was identified as yet a new form of ‘hermaphroditism’, where, unlike the more common forms, a uterus and vagina were present. The condition is now thought to be caused by a mutation of the SRY gene as seen in 10% of cases or a defect in a different TDF, such as the SF-1 gene. The gonads remain dysgenetic and thus produce no hormones in utero, postnatally or in puberty.

The XY female and SWYER syndrome

SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential.

XY Chromosome

There is speculation that those two boxers who had been disqualified from IBA fights due to failed gender tests—and masculine appearance—is they may have a disorder called Swyer syndrome. This isn’t a fact, but it would explain why they would have been declared women at birth and always identified as women. Those with this very rare condition have a male Y chromosome despite their female sexual hardware and offer no male advantage.