Welcome to the new Inter/Act Blog! As you may know, Inter/Act is a safe place for young people with intersex conditions or DSD to come together, express themselves, and unite their individual stories to develop a voice for a new generation. We have revamped our site to get ready for some exciting changes over the next few months. Feel free to poke around, ask some questions, tell your friends. We’re so glad you are here!
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Detecting an Intersex variation is not as simple as it looks. It is more than just about chromosomes - Its also about sex anatomy, hormones, and genetics. Intersex means having an intermediate sex (its in the name). It means having characteristics of both males and females and not being “fully” male nor “fully” female (or being in between male and female, or being neither male nor female). You can have any combination of male and female characteristics. There are about 30-40+ intersex differences/variations/types out there, but only a few are well known of (because they’re more common). The rest are little well known and are, consequently, ignored (because they’re less common). Whats more? There is little research on intersex and its many variations, so this makes matters worse. Something else that complicates matters is that some intersex variations are more noticeable, while others are less so (they’re more subtle). As a result, many people who are intersex don’t know they are so (some get to find out somewhere later on in their lives, while others never get find out).
If you’re expecting a doctor to diagnose you as intersex and you’re only showing subtle symptoms/traits (or even if you’re showing more noticeable traits), don’t count on it. Most doctors are poorly educated on the subject (heck, I know more about it than most of them - and I didn’t even go med school). Even if they’re well-educated on it, there’s a very good chance that they’re only going to take the most common intersex variations into account - completely failing to take into account the other less common, less researched ones. So as a result, their methods of detecting an intersex difference are going to be pretty narrow and simplistic (i.e. only taking the more common variations into account; focusing only on karyotype). Their definitions of intersex also tend to be narrow, simplistic, and out-of-date.
Just because you have a chromosome reading of 46,XX or 46,XY does not mean you’re out of the woods. You have to take other things into account, like sex anatomy (internal and external reproductive organs) and genetic mutations. It is, for example, possible to have testes but have a 46,XX chromosome reading (this is called “XX Male Syndrome”). The other problem with these chromosome tests is that they’re not always accurate (mistakes can happen). Another problem with regular chromosome tests is that they fail to spot mutations in individual genes - which are located in our chromosomes (as they only look at your chromosome pattern - or karyotype, i.e. 46,XY).
To spot mutations in those genes, you have to take a genetic test that detects for mutations in specific genes. For example, I have 17b-HSD (in which the gene that is responsible for making the enzyme that converts Androstenedione to Testosterone is mutated, and therefore my body is unable to make healthy amounts of T to keep me healthy and well - resulting in Low Testosterone) so that means that the gene “HSD17B3” which located in chromosome 9 or 11 (I forgot which one it is exactly) is mutated. In order to find out the kind of mutation I have in that gene, I have to take a genetic test specifically designed to spot mutations in the HSD17B3 gene (there is only one lab here in the US that does this. But really, the clinical and endocrinological symptoms speak for themselves so I don’t feel the need to do this.).
Finally, some variations overlap with each other. This can result in a possible misdiagnosis. The lack of knowledge about all these variations makes things worse. (I had 2-3 misdiagnoses before finding out I had 17b-HSD.)
So overall, intersex (and detecting it) is much more complex than it seems. In reality, it’s not as simple as it looks. A lack of awareness (and research, as well as a poor understanding) about the different types of intersex variations out there only makes things much more complicated.