Not to nitpick but to me the title of this post is implying that XXY individuals are born female. Generally they’re born male.
What the comment is referring to is likely Swyer Syndrome, where the individual has an XY configuration but a dysfunctional gene in the sex-determining region of the Y chromosome. This means the embryo develops female anatomy and the resulting children tend to identify female, but they lack functional gonadal tissue. It’s estimated to occur at a rate of about 1 in a 100,000 females.
By the by, treatment for these individuals usually involves removing the dysfunctional gonadal tissue as it often becomes cancerous (which often gets misunderstood as “gender reassignment surgery”) and supplemental hormone replacement therapy. They would be affected too by any bans on hormone administration to kids often connected with trans people. One of the reasons why blanket bans should be a no-go regardless of how you feel about any other trans issue.
I think we can safely say that is nitpicking, but it’s informative and correct so I’m all for it!
From my biology lessons 20 years ago, I thought I was taught that it was the presence of a second X chromosome that made a person genetically female, but I could definitely be misremembering. Either way, XXY individuals are usually born male, and Dr Genetics Federation was likely talking about sawyer syndrome (or so google tells me). Thanks for the correction!
Not in humans, no! While in some animals sex determination is purely about X dosage (Drosophila), in humans the Y chromosome is actually sex-determining. In females the second X chromosome actually gets inactivated as a means of gene dosage compensation.
Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction.
Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens.
The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does allow female genital and sexual development in those with the condition.
Individuals affected by CAIS develop a normal external female habitus, despite the presence of a Y chromosome, but internally, they will lack a uterus, and the vaginal cavity will be shallow, while the gonads, having been turned into testicles rather than ovaries in the earlier separate process also triggered by their Y chromosome, will remain undescended in the place where the ovaries would have been.
Most individuals with CAIS are raised as females.They are born phenotypically female and are usually heterosexual with a female gender identity; however, at least two case studies have reported male gender identity in individuals with CAIS.
There’s also androgen insensitivity syndrome (AIS) in which the person develops female characteristics. In some cases they carry a child to term with embryo transfer.
Part of the issue with removing the nuts (gonadal tissue?) Is that these people have major issues with bone density and other sex hormone related problems whereas the risk of cancer is similar to any male getting testicular cancer.
They aren’t given a choice because the surgery happens at a young age, yet they have to bear the medical consequences.
So disclaimer here, I’m only savvy on the molecular bio and can’t speak as much to the actual healthcare side of things, but the actual diagnosis is a little more complex than what I’ve written here. Sometimes streak gonads (gonadal tissue which failed to become fully functional ovaries or testes) will still contain some testis or ovarian tissue which will produce hormones. Just depends on the severity of the gonadal dysgenesis.
But as you’ve written it here is seems NPR is implying the surgery itself causes bone density issues? Those issues arise due to an absence of sex hormones, which would still be a problem in complete gonadal dysgenesis. This is why treatment is usually paired with hormone therapy as well as surgery.
I can’t speak to the relative risks of either, though. As with any surgery and treatment, it’s a medical decision with a lot of factors.
This is also outside of my area of expertise, but I am guessing the NPR interview is this one from Fresh Air:
Weigel, who identifies as she/they, was born with androgen insensitivity syndrome — a condition in which a person has both X and Y chromosomes, but does not respond to male hormones. Though Weigel presented as female at birth, tests revealed that she lacked a uterus and ovaries, and that she had internal testes.
Citing the risk of testicular cancer, Weigel’s doctors convinced her parents to have her testes surgically removed, but Weigel now says the cancer risk was overstated — and that the removal of her testes as an infant led to complications later in life.
“By removing my testes, they basically put my body into artificial hormone withdrawal and didn’t give me new hormones until a certain age when they decided it was time to induce puberty on my body,” she says. “Puberty that would have happened naturally on its own had they left my body intact.”
While it is often recommended that women with CAIS eventually undergo gonadectomy to mitigate cancer risk, there are differing opinions regarding the necessity and timing of gonadectomy. The risk of malignant germ cell tumors in women with CAIS increases with age and has been estimated to be 3.6% at 25 years and 33% at 50 years. However, only three cases of malignant germ cell tumors in prepubescent girls with CAIS have been reported in the last 100 years. The youngest of these girls was 14 years old. If gonadectomy is performed early, then puberty must be artificially induced using gradually increasing doses of estrogen. If gonadectomy is performed late, then puberty will occur on its own, due to the aromatization of testosterone into estrogen.
So the argument, I think, is that the risk of cancer is very low before puberty, and people with CAIS should be involved in the decisions - since it may be pretty safe to allow puberty to happen prior to gonadal removal, at the least, which would obviate the need for surgery as a very young child and hormone replacement as an adolescent (a non trivial burden for a young person).
Ohhh, I see my confusion now. My original comment was about Swyer syndrome, not CAIS. CAIS and Swyer Syndrome are very similar in concept but have a lot of important differences, especially in gonadal development. Usually in CAIS the testes will develop which can produce sex hormones, while Swyer syndrome leads to streak gonads which are generally functionless. Seems like there’s quite a debate about the timing of gonadectomy in CAIS indeed.
Yes. Though I’d point out that HRT covers a much broader range of pathologies than what the current media landscape covers.
As far as I understand, in the original etymology, “replacement” in HRT referred to the fact that the hormone source is coming externally to buoy up a diminished supply in the body. It’s not (necessarily) referring to “displacement” of a hormone that’s already there. More like this usage: when you run out of milk, you go to the store to replace it.
Technically menopausal hormone therapy is HRT, for example. Testosterone replacement in males with low circulating levels is another. Nowadays the usage is definitely shifting, though, and clearly it has a different colloquial meaning.
Not to nitpick but to me the title of this post is implying that XXY individuals are born female. Generally they’re born male.
What the comment is referring to is likely Swyer Syndrome, where the individual has an XY configuration but a dysfunctional gene in the sex-determining region of the Y chromosome. This means the embryo develops female anatomy and the resulting children tend to identify female, but they lack functional gonadal tissue. It’s estimated to occur at a rate of about 1 in a 100,000 females.
By the by, treatment for these individuals usually involves removing the dysfunctional gonadal tissue as it often becomes cancerous (which often gets misunderstood as “gender reassignment surgery”) and supplemental hormone replacement therapy. They would be affected too by any bans on hormone administration to kids often connected with trans people. One of the reasons why blanket bans should be a no-go regardless of how you feel about any other trans issue.
I think we can safely say that is nitpicking, but it’s informative and correct so I’m all for it!
From my biology lessons 20 years ago, I thought I was taught that it was the presence of a second X chromosome that made a person genetically female, but I could definitely be misremembering. Either way, XXY individuals are usually born male, and Dr Genetics Federation was likely talking about sawyer syndrome (or so google tells me). Thanks for the correction!
Not in humans, no! While in some animals sex determination is purely about X dosage (Drosophila), in humans the Y chromosome is actually sex-determining. In females the second X chromosome actually gets inactivated as a means of gene dosage compensation.
TIL, thanks!
Or, androgen insensitivity syndrome, specifically complete androgen insensitivity syndrome:
Very true. Both syndromes fit the bill here.
There’s also androgen insensitivity syndrome (AIS) in which the person develops female characteristics. In some cases they carry a child to term with embryo transfer.
NPR had a segment about this the other day.
Part of the issue with removing the nuts (gonadal tissue?) Is that these people have major issues with bone density and other sex hormone related problems whereas the risk of cancer is similar to any male getting testicular cancer.
They aren’t given a choice because the surgery happens at a young age, yet they have to bear the medical consequences.
Is that why women suffer from osteoporosis more than men? Testosterone makes bones stronger?
The dairy industry had it wrong all these years
So disclaimer here, I’m only savvy on the molecular bio and can’t speak as much to the actual healthcare side of things, but the actual diagnosis is a little more complex than what I’ve written here. Sometimes streak gonads (gonadal tissue which failed to become fully functional ovaries or testes) will still contain some testis or ovarian tissue which will produce hormones. Just depends on the severity of the gonadal dysgenesis.
But as you’ve written it here is seems NPR is implying the surgery itself causes bone density issues? Those issues arise due to an absence of sex hormones, which would still be a problem in complete gonadal dysgenesis. This is why treatment is usually paired with hormone therapy as well as surgery.
I can’t speak to the relative risks of either, though. As with any surgery and treatment, it’s a medical decision with a lot of factors.
This is also outside of my area of expertise, but I am guessing the NPR interview is this one from Fresh Air:
The Wikipedia article again gives some context:
So the argument, I think, is that the risk of cancer is very low before puberty, and people with CAIS should be involved in the decisions - since it may be pretty safe to allow puberty to happen prior to gonadal removal, at the least, which would obviate the need for surgery as a very young child and hormone replacement as an adolescent (a non trivial burden for a young person).
Ohhh, I see my confusion now. My original comment was about Swyer syndrome, not CAIS. CAIS and Swyer Syndrome are very similar in concept but have a lot of important differences, especially in gonadal development. Usually in CAIS the testes will develop which can produce sex hormones, while Swyer syndrome leads to streak gonads which are generally functionless. Seems like there’s quite a debate about the timing of gonadectomy in CAIS indeed.
Is it still considered HRT if you’re supplementing additional hormones?
Yes. Though I’d point out that HRT covers a much broader range of pathologies than what the current media landscape covers.
As far as I understand, in the original etymology, “replacement” in HRT referred to the fact that the hormone source is coming externally to buoy up a diminished supply in the body. It’s not (necessarily) referring to “displacement” of a hormone that’s already there. More like this usage: when you run out of milk, you go to the store to replace it.
Technically menopausal hormone therapy is HRT, for example. Testosterone replacement in males with low circulating levels is another. Nowadays the usage is definitely shifting, though, and clearly it has a different colloquial meaning.