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Intersex conditions explained simply - Printable Version

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Intersex conditions explained simply - YesYourNigel - Nov 04 2024

I find any discussion on intersex to be dominated by either people who have no clue what these conditions are (with one side saying "So what if the third sex is real? They're a statistical anomaly so they might as well not be!" and the other claiming sex development is some mystical esoteric process that no-one has explained yet and that hermaphrodites are everywhere around us), or biologists who can't form two sentences without invoking complicated terminology. Online sources are a disaster because they're either highly scientific due to the "scientific curiosity" nature of these rare conditions, or they're deliberately misleading and deceptive. So I decided to explain how this stuff works as simply as I can for non-biologists. Note that I myself am not a biologist, so if anyone knows more about this, feel free to correct me.

Before this, I just wanna say that people with genuine physical developmental disorders have absolutely nothing to do with healthy standard-issue males or females claiming they have opposite gendersouls and then using plastic surgery and hormonal injections to fuck up their healthy endocrine systems to create a superficial illusion of being the opposite sex. Intersex people genuinely have "inbetween" traits due to how human development works, even if they can still ultimately be identified as male or female. Trans people are just neutered but otherwise normal and healthy individuals of their sex experiencing the effects of a hormonal imbalance the way any regular body of their sex would. Given that healthy individuals already naturally produce and react to what gets called "opposite-sex" hormones in smaller amounts, having a hormonal imbalance simply means they're experiencing these effects to an unhealthy extreme, rather than magically becoming the opposite sex. For example, testosterone makes women grow body hair, gain libido and develop their clitoris at puberty, so women who take too much testosterone are just experiencing extreme effects of that, rather than obtaining any uniquely male structures and functionality.

Now, you might've heard that we're all female by default, and that's kinda true, as in, if the body lacks male genes, it will default to a more female-looking state. If you've ever looked at the Y chromosome, it's positively tiny compared to X, because most of the code for sex development, both male and female, is on our X chromosome. Male genes on the Y chromosome essentially just block or modify semi-female sex development to form testicles, which then go on to produce testosterone that guides the formation of a penis. Females need the cooperation of both of their XX's to develop their ovaries (because if a single X lead to complete female development, males, who also have one X, would always develop as female too). Unlike the penis, the external female genitalia does not need any hormonal intervention and will default to a vulva unless testosterone interferes with it.

The Y chromosome itself doesn't determine sex, but rather the SRY gene on the Y chromosome does. If you have SRY, you will develop as male. If you don't, you will be female. It's as simple as that. Given that the Y chromosome carries this SRY gene, it's not wrong to equate male development with Y, but in rare cases (but enough to result in several named conditions), this SRY gene can get displaced and end up on an X chromosome, whose female-default expression it overrides. This is how it's possible to have XY females or XX males, because the XX males still ended up with SRY that kickstarted male development, and the females, despite their Y chromosome, didn't.

There is no such thing as a third sex, there is only male or female, and various degrees of disorder and malfunction of male and female genitalia. The minority of intersex conditions that most people think of when they hear "intersex" (meaning the ones resulting in ambiguous genitals, or even more exceptionally, the ones that result in superficially opposite-sex genitals) are really just a partially developed reproductive system that got halted at or mixed up with the semi-female default developmental path. And yes, intersex conditions like these are a disorder, as in, they generally ruin reproductive function and make these people unable to start puberty without medical assistance. However, the vast, vast majority of intersex cases do not result in ambiguous genitalia, and certainly not in opposite-sex genitalia. Most intersex conditions are just small things like the pee-hole being in the wrong place.

Genitals are developed in 2 stages: internal and external. The first stage develops the internal genitalia, i.e. either ovaries or testicles and puts them to work producing hormones. Second stage is for these hormones to produce external genitalia, which will either stay a vulva by default, or be modified by testosterone into a penis. This means that if something goes wrong with a male fetus' testosterone production, its external genitalia could default to a vulva.

Let's clarify exactly what I mean when I say male or female - it signifies whether the individual has gone down a male or female developmental pathway with their internal genitalia, aka the mechanism that exists to produce your sex's reproductive cells and the resulting hormones in the first place. External structures exist to fascilitate transport of sex cells, but they themselves do not define sex. So yes, you could, in exceptional cases, have a male with a vulva if his external genital development gets disrupted and defaults to female (the reverse, i.e. woman with a superficially normal penis, isn't a thing to my knowledge). The thing is, a male with a vulva isn't going to be walking around having no idea that his ovaries don't exist, that he can't start puberty, that he can't have a period and that he doesn't have any internal female structures like a vagina.

So, key points - to turn gonads into ovaries you need XX, to turn them into testes you need SRY. After that, you don't have to do anything to get a vulva, but you do have to produce testosterone to form a penis.

Now let's look at some intersex conditions that trans activists love to peddle:

XY females (Swyer syndrome): the lack of SRY gene means that, despite the Y chromosome, there's nothing to block female development. But since ovaries require the cooperation of both XX's, the internal genitalia will be female but malformed. Ovaries won't develop fully from gonads, and uterus and fallopian tubes will be malformed or partially developed. Their non-functioning gonads mean they cannot start puberty, and will need to be put on female hormones.

XX males (de la Chapelle syndrome): the SRY gene latches onto an X, overrides its female defaults, and initiates relatively complete male development. The negative effects aren't as bad because X chromosomes, which we all have regardless of sex, hold most of the info for sexual development (hence why we default to the more female development), so a lack of comparatively scrawny Y isn't as disruptive to specifically male sexual development as long as they have SRY, though they will be sterile since a lot of genes needed to complete healthy male development remain on the Y chromosome.

There is an interesting variant where the XX male lacks a SRY gene but still develops as a sterile male. The SRY normally activates another gene on the X chromosome involved in male development, but said gene can apparently undergo a mutation and activate on its own. However, at this point we are getting into a number of cases that you could count on the fingers of one hand and you'd be a thousand times more likely to have a freakin' horseshoe kidney than this specific disorder. Still, this is the closest I know that you could get to the trans claim that "you could have the wrong chromosomes and not even know it!" unlike the rest where you can't even start puberty and no-one is supposed to notice anything's wrong.

Congenital Adrenal Hyperplasia: this is when a female fetus with female internal organs (ovaries, uterus etc.) has faulty adrenal glands, which are the glands that normally produce small amounts of testosterone in females, and so she ends up producing excess male hormones. This messes with the development of external genitals, leading to an enlarged clitoris and fused labia, which can kinda look like a penis. Females with faulty hormones are unlikely to produce enough testosterone to fuel the production of a full on penis so the ambiguous genitalia gets noticed fairly early. Unsurprisingly having excess testosterone can wreak havoc on internal female genitalia and make them atrophy so this is another "natural variation on the male-female spectrum" whose disruptive and harmful side-effects need to be medically treated.

Complete androgen insensitivity syndrome: This is a XY male with SRY gene, meaning male internal organs (fully functional testicles, no uterus or fallopian tubes), but externally they have a vulva. Despite having testicles, they cannot process their own male sex hormones and would develop as neutered males, so they need to be put on female hormones, which makes them experience effects closer to female puberty (though one that does not involve testosterone at all, unlike healthy female puberty). Due to this, they look externally typically female.

5-alpha reductase deficiency: This is another XY male with SRY gene and external female genitalia, but this external appearance is due to only one form of testosterone involved in formation of external genitals. They have no issue processing the rest of their testicles' testosterone or starting male puberty and are very obviously male. Notorious for putting intersex men in women's sports in the Olympics.