The Case of XX Males -Science - de la Chapelle syndrome - XX male syndrome - Transgender Universe

Is it possible to be born physically assigned male only to find out genetically you are female? Today we explore that question in “The Case of XX Males”.

“XX male syndrome, also known as de la Chapelle syndrome, is a rare chromosomal occurrence that affects about 1 in every 20,000 men who are normally considered to be ‘assigned male’ at birth.”

XX male syndrome, also known as de la Chapelle syndrome, is a rare chromosomal occurrence that affects about 1 in every 20,000 men who are normally considered to be “assigned male” at birth. It was named for Albert de la Chapelle, who characterized the condition as a genetic disorder in 1972. The condition is also scientifically known as 46,XX testicular DSD. It is where men who were assigned male at birth are actually found to be genetically female, born with two “X” chromosomes instead of the usual XY combination associated with assigned males. For those who are not aware, assigned males at birth are typically born with XY chromosomes while assigned females are typically corn with XX chromosomes.

The Case of XX Males - de la Chapelle syndrome - Transgender Universe

Some children born with XX syndrome are identified with the condition at birth. The most common indicators in this case are cryptorchidism (undescended testes) and hypospadias (when the urethral opening not at its normal position at the end of the penis). Other individuals with xx syndrome are not identified until puberty. They are born with and develop normal genitalia, though they are often identified to have abnormally small testes along with gynecomastia (breast development in males). Another indicator later in life is sterility.

So how does an assigned male body develop with only “XX” and no “Y” chromosomes?

The condition is usually caused by an error in cell division within the father. For those who are identified at puberty, the presence of an SRY gene (normally found on Y chromosomes) is often found on the father’s X-chromosome that is combined with the mother’s X at conception. The presence of a correctly firing SRY gene is what causes the male genitalia to develop in these cases. In other cases where the genitalia are underdeveloped, like those who are identified at birth, the SRY gene may not be present. This genetic condition is usually inherited from a parent.

In Conclusion

Like in the first article of the series titled, “The Curious Case of XY Females”, we are now able to conclude with even more clarity that many varieties in sex and gender can occur in human beings. We also have more clarity with regards to the functions of the SRY gene, in which it is becoming clear that this gene is key to the development of male physical genitalia. What takes place with this gene during development is key to the creation of the physically assigned male body regardless of the X or Y combinations in humans. With each passing day we are realizing that both sex and gender identity are the result of genetic and biological factors.

You can read about “The Curious Case of XY Females” here.

  • Notzri

    What would really be relevant to this article are any studies that show a correlation between XX male syndrome and gender identity disorder.

    According to sources used by Wikipedia, XX male syndrome presents phenotypically male humans that may be sterile or have diminished gonads and libido, but otherwise have a normal male mindset. While female on the genetic level, there was no indication that the patients had any knowledge or feeling that they were female, or had any other mental abnormalities.