Intersex

[Tootsurly]

Bit of a thought experiment, plus curious as to how much people know about intersex conditions / DSDs.

This is slightly Black Mirror, although not totally beyond the realms of possibility. If there ever came a point where anything specifically related to being male or female required a DNA test to determine your sex before participating, what would happen to intersex people whose chromosomes didn't match their outward appearance (i.e. genotype and phenotype don't match)?

I think the experience of having a DSD like Swyers and CAIS will change alot for the next generation.
I knew that my bub had XY chromosomes by around about the end of the first trimester of my pregnancy. If he'd been born looking female we'd have known from the start and there'd be no surprises in store when puberty didn't progress as anticipated.

Which I hope will make things easier for those effected.

My main feeling about this is that in any place where babies get basic health checks that should include a cheek swab, not just for DSDs but for other potential problems; that a child who needs medical support during their development should get it as early as possible to save them from physical or social complications.

And that the sex recorded on the birth certificate should not be finalised until the result of the cheek swab is back, that it should reflect the results of the swab, and should be regarded as fixed for life.

A bit of reach in parts of the world where children are not guaranteed food, housing or education, but the rich world could start.

It is very interesting to see in person.
I have seen female athletes on TV with very high levels of testosterone and so have very male features but they are still female just very masculine.
I don’t know what their chromosomes are.

The runner Caster Semanya is often described as a female with naturally high levels of testosterone . Semanya is a male who has a dsd and whose testosterone levels are within the normal male range.

Monitoring for particular cancers will depend on the structures that have developed. Often in XY DSDs the gonads do not develop in a typical way (typical development is for gonads to stay in the abdomen and develop as ovaries in XX and to drop and become testicles in XY). Where the gonads have not differentiated into either structure (streak gonad/ovary) there is a risk of a particular tumour type known as a gonadoblastoma which individuals will be monitored for. Sex-specific cancer monitoring - prostate, cervix - will depend on whether these structures have developed in individuals with DSDs.

@DeanElderberry What you are describing is newborn screening, a programme of which exists in the UK for common metabolic conditions where there is an identified intervention to improve quality of life. This is currently delivered through the heel prick test that is done at day 5 after birth and includes conditions like cystic fibrosis. There is a study underway to expand the number of conditions into the hundreds using this blood spot and the UK is a global leader here, although it is not without many challenges, including ethical ones. This test would identify an individual’s karyotypic sex. This test couldn’t be performed on a cheek swab - tissue/DNA from a cheek swab actually comes from a different cell lineage, so you need blood (or saliva, but good quality DNA from saliva is unlikely for this type of testing)

https://www.genomicsengland.co.uk/initiatives/newborns

I also want to know which female athletes on TV with very high levels of testosterone that @Wonderi is talking about as i suspect they are really male athletes with very normal male levels of testosterone that have been mis-sexed at birth due to having a DSD that affects only males.

V interesting. Edited to add that this was meant to be a quote tweet on what @Moonbark said above.

Although DSDs are rare, it would benefit those who experience this to have sex confirmed in this way. It would also help them to differentiate themselves from the conflation and mess of "the alphabet soup".

As Lily says, if the child knows from the start about their DSD, this will help both them and their families.

It would also help with issues with sports and other issues longer term, assuming we also stop the current nonsense where people can change the sex in their passports and the current UK Supreme Court case re GRCs lands on the side of common sense. Obviously that's two very different issues (DSDs and transgender identities - both with and without a GRC - are not the same thing) but the commonality is the impact on women's sports, services and spaces.

Swyer and CAIS would remain very tricky, even with this additional screening. However, it does still offer hope. The treatment options would presumably still be the same as they are now but families would have much longer to consider how best to support their child and would ultimately be better informed when making decisions.

OP do you know the difference between genotype and karyotype?

I'm sure she does, given her condition. But how important is it? A simple karyotype test can sort people in 99.98% of cases. And the remaining cases mostly fall within very well understood developmental variations (whether genetic or environmental in origin). Then, the decision on whether 5-ARD can enter the women's hurdling, or whether CAIS should be sent to women's prison, is purely pragmatic, not metaphysical.

There are a lot of TRAs who identify as being ‘intersex’. Often they change their mind about what condition they have (or forget what they had previously said), identify as having exceedingly rare conditions that have only been described once in medical literature, or as having impossible conditions. I’ve seen some who claim to have found out via impossible routes (eg no understanding tests that would need to be carried out could not be done in seconds in a GP practice). Or one pregnant young woman (with no medical interventions required to achieve pregnancy) claiming doctors didn’t know if she was male or female.

Claiming ’Intersex’ is a way for TRAs to gain kudos in their community where otherwise they are labelled as oppressors to the privileged men who claim to be women. I guess if you actually do have a DSD then you could claim that kudos too and that might seem attractive.

Well said.

A question occurred to me regarding standard ultrasound tests.

Apparently a foetal uterus is clearly evident at 19 weeks. At 14- 15 weeks, external genitalia are clearly visible. Obviously visual identification mistakes can occur and sometimes sonographers get the sex of a baby wrong.

However, establishing lack of uterus plus lack of penis/scrotum presumably does already, or should, flag as an anomaly for further investigation, with likely candidates including Swyer and CAIS. In other words routine 20 week scanning should prompt further tests at an appropriate point in time, even if the parents didn't want to know the sex of their child at this point.

So my question is this: is it a sonography training issue?

OP, I hope my posts aren't coming across as too impersonal. It would be good to hear your thoughts on whether knowing you had Swyer from an early age may have helped or not. Or did you know all along, prior to puberty? Apologies if you've already covered that and I've missed it.

Rather than cheek swabs or ultrasound, perhaps they could extend the Guthrie test?

I know a lot of intersex people and - for what it's worth - they all use the term "intersex" and rarely the term "DSD".

That's convenient isn't it

You might be interested in this, which is an extension of the 100,000 genomes project:

https://www.genomicsengland.co.uk/initiatives/newborns

Although appealing in its purity, how useful would this be? OP is somatically female and could potentially carry an implanted embryo to term, but would have a male sex marker.

Children with 5-ard who develop a strong female identity are offered gonadectomy/œstrogen/vaginoplasty. Whilst, for me, this is right on the edge of acceptability, it does fit with my rough and ready paradigm of "DSDs can choose: the rest of us should lump it".

If we want a sex marker that's both medically and socially useful, maybe there should be more of them eg M, F, SS, CAIS, 5-ARD etc. Intrusive, yes. But your proposal would also advertise to the world the presence of a DSD, and to less useful effect.

Although appealing in its purity, how useful would this be? OP is somatically female and could potentially carry an implanted embryo to term, but would have a male sex marker.

Not if they looked at genotype rather than karyotype.

I don't know quite what was intended by the PP I responded to, but:

Karyotyping is simpler than genotyping, and

If the idea is to reflect the whole genotype, including the genes that make an XY individual into someone with SS, you then have to decide if they are 'really' female or not, which is ultimately arbitrary.

Karyotyping was cheaper but won’t necessarily continue to be so, especially if genotyping becomes more routine to test for other genetic conditions.

Karyotyping is a way of visualising the whole genome including the structure of the chromosomes which is important when looking for large imbalances/balanced rearrangements of the genome.

Molecular karyotyping techniques are becoming more developed but tend to focus their utility in individuals with haemato-oncologies.

You will be able to achieve a degree of ‘karyotyping’ through the WGS techniques used in the newborn screening pilot, but there are limitations for this including time and cost. It is a very involved test and throws up many issues compared to a conventional G-banded karyotype for sex chromosome disruption.

@Wonderi there is literally no overlap between male and female testosterone levels. If you're seeing an athlete on tv who is being asked to reduce his testosterone levels then it's because he's male.

From the Telegraph newspaper:
"The irony is that a controversy smouldering for two years could be resolved in roughly 20 seconds. That is the length of time it would take to undertake the simple cheek swab to establish beyond doubt whether Banda is genetically XX or XY. This is a vital determination when you study the Caster Semenya precedent. For a decade the South African athlete, the world and Olympic champion over 800 metres, was widely depicted, without a hint of curiosity, as female...
But then, 10 years later, came the Court of Arbitration for Sport ruling that changed everything: Semenya, it said, had a difference of sexual development known as 46 XY 5-alpha reductase deficiency. Note the two crucial letters, XY: in other words, biologically male.
The same situation has unfolded, in nearly every detail, with Imane Khelif. First the International Boxing Association bans Khelif from the World Championships on the basis of test results declaring that the athlete’s DNA is “that of a male, consisting of XY chromosomes”

XY: in other words, biologically male.

I would say genetically male and that ‘biolgically male’ would be the individual’s biology -Anatomy, hormones etc.

Handy graph -

Your genetics are part of your biology.

Such a predictable plot twist

You’re right.