this post was submitted on 17 Jul 2023
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Don’t You Know Who I Am?
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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!
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.
Or, androgen insensitivity syndrome, specifically complete androgen insensitivity syndrome:
Very true. Both syndromes fit the bill here.
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.
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 that why women suffer from osteoporosis more than men? Testosterone makes bones stronger?
The dairy industry had it wrong all these years
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.