Talk:XXXY syndrome

Wiki Education Foundation-supported course assignment

This article is or was the subject of a Wiki Education Foundation-supported course assignment. Further details are available on the course page. Student editor(s): Ejohn27.

Above undated message substituted from Template:Dashboard.wikiedu.org assignment by PrimeBOT (talk) 05:10, 18 January 2022 (UTC)

Wiki Education Foundation-supported course assignment

This article is or was the subject of a Wiki Education Foundation-supported course assignment. Further details are available on the course page. Student editor(s): Abechar3.

Above undated message substituted from Template:Dashboard.wikiedu.org assignment by PrimeBOT (talk) 05:10, 18 January 2022 (UTC)

note

I'm planning to work on this article for my university genetics course.Ejohn27 (talk) 19:26, 8 October 2015 (UTC)ejohn27

Possible Edits

Outline for Wiki Article + Possible Citations

Quality of life Detection of the additional chromosome methods other than karyotyping, Where DNA isolated from Management of the disease treatments for various symptoms Implications of distinguishing XXXY Syndrome from XXY Syndrome (Klinefelter syndrome) Additional symptoms not yet mentioned Taurodontsim Hip dysplasia Prognosis History (identification of disease, etc) Epidemiology Sources:

- https://www.nature.com/gim/journal/v13/n7/abs/gim92011103a.html

- https://journals.scholarsportal.info/pdf/19405510/v15i0004/328_sfimxacdxxxx.xml

- http://www.sciencedirect.com/science/article/pii/S107921040700858X

- http://onlinelibrary.wiley.com/doi/10.1111/j.1651-2227.2011.02235.x/full

- http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_655.pdf

On Caroline Cossey

@Vaticidalprophet: See the definition of WP:RELIABLE what you are currently doing is WP:OR, Wikipedia mirrors reliable sources 1 2. If a source is considered reliable, it is added, and adding synthesis or otherwise to it isn't allowed. No sources state that Caroline Cossey doesn't have XXXY, what you are saying is no way necessary for inclusion if someone has a medical condition, so what you are doing is original research. Des Vallee (talk) 18:49, 4 May 2024 (UTC)

The thing about Wikipedia is that while we have to say what reliable sources say, that doesn't mean we have to repeat potential serious errors, especially when they're about very sensitive medical conditions. The essay Wikipedia:When sources are wrong is very useful here. As the line goes in Section 5: "We do not engage in original primary or secondary research, but we are creators of original tertiary analysis."

The situation surrounding Cossey's XXXY claim is very sensitive and complex. There are in fact extremely few 'reliable sources' saying it -- the primary source is her autobiography, which those sources (which are mostly tabloidy) mirror. The only academic sources I know of are 1. not medical and 2. mirroring her claim. Now, I'm not saying she's lying -- and if she's really XXXY, that's super exciting, because it completely rewrites everything we know about the disorder and about the history of SCA research! But that's exactly the problem...that it rewrites everything we know about the disorder and the history of SCA research.

The problem with straightforwardly presenting this claim as true, without critical literature, is:

• XXXY is consistently portrayed as a significant intellectual disability syndrome. Because of how bell curves work, the least affected people described in the medical literature have IQs just above the intellectual disability borderline. People are absolutely obsessed with case studies of the rarer tetra/penta SCAs that report people without intellectual disabilities. There are exactly two cases of this for tetrasomy X, and they remain copiously and constantly cited in the literature. There's one study for XXXXY that implies some people have non-ID nonverbal skills and it's constantly cited by everyone all the time. Cossey is clearly a bright woman, and presenting her as uncomplicatedly "representative of" XXXY both seriously misrepresents the literature and raises the huge, glaring question of why it has never engaged with her.
• A similar problem applies to 60s/70s views of gender and SCAs. People at that time wanted very badly to draw connections between what were at the time considered "disordered" views of sexuality and gender, and SCAs. They repeatedly failed. Quite a bit of what we know today about the relationship of SCAs with sexual and gender identity is based on the total inability of a bunch of super-motivated researchers to turn up anything supporting their contemporary transphobia/homophobia. People enthusiastically published case studies about trans people with SCAs -- and still do -- so where's the report? It's unlikely she could have gotten it blocked from publication, because...
• ...researchers at the time did not care about patient consent to case studies. It was absolutely irrelevant to contemporary practice. Any case study of anyone with a tetrasomy SCA was an instant ticket to publication in a huge-deal journal in the 60s/70s. A case study of an XXXY trans woman without an intellectual disability would have been published no matter how stridently she objected -- because publication ethics as we understand them didn't exist -- and would be copiously cited in the literature on tetrasomy SCAs to this day.
• The claim is used to support that she looked "more feminine" or similar, but this isn't actually how SCAs work! It's a common misunderstanding of the KS phenotype, usually based on extrapolating from the severe gynecomastia a minority of KS men develop. Tetra and penta SCAs definitely don't work that way -- "feminization" or "masculinization" on the chromosomal level is not additive like this. Tetra/penta SCAs, including X-polysomy, are in fact associated with facial features people would tend to parse as masculine (e.g. prominent brow and chin structure, midface lengthening).
• Modern SCA researchers are not our 60s/70s counterparts. There is markedly more focus on the lived experience of people with SCAs, including tetrasomy SCAs. The literature flails to even find narratives of XXYY men (the most common tetra SCA by a mile) and desperately looks for them. The literature does not seriously engage with Cossey's claim. It would do that if it knew of it. This is a field that still exists on the level of case studies. Presenting Caroline Cossey uncomplicatedly as XXXY makes her a nontrivial proportion of all reported XXXY individuals. Why is she never described in the literature, given her presentation is so unusual and completely rewrites everything known about cognitive development in tetrasomy SCAs?

Again, I don't intend to accuse her of lying. Karyotyping in the 60s through early 70s was difficult, and a lot of studies from that era report blatantly erroneous results. I've written literature reviews where I had to put huge footnotes of "everyone cites this case study like the subject had a particular disorder, because that's what the title says, but the actual text itself clarifies this is something completely different". (In edge cases, this can be a pretty seismic shift about what's known about a disorder, precisely because the literature on rare SCAs is so limited.) It's also possible she had a different SCA (e.g. KS) that she or the practitioner reporting the diagnosis misunderstood, or that she really is XXXY. And, again, it's possible the whole thing wasn't true. The problem is that when we have someone with such a radically unusual presentation of a disorder, that completely violates the known cognitive and physical phenotype of this disorder, and we have no medical confirmation of it for a particular time and particular disorder that people were super enthusiastic to publish about at length, that raises serious ethical and encyclopedic qualms with uncomplicatedly presenting it as "100% true". (It also raises active serious MEDRS qualms with the claim on the Caroline Cossey article proper, which uncomplicatedly presents XXXY as physically feminizing in a total gestalt sense.)

I think this falls under WSAW#5. Taking the claim at face value is overly credulous, given the quality of the sources claiming it and the radical implications it has for the XXXY literature. Given the state of the sourcing, this makes the best option "saying nothing". If one way or another we find out for sure that Cossey is XXXY, that'll be very exciting, and I can tell you a few of the names that will be on the publication. Until then, we're falling into the same problem as "PBS says 60 people died building the World Trade Center" -- it may or may not be wrong, but it is inconsistent with a lot of the facts on the ground, so editorial judgement suggests we exclude it. Vaticidalprophet 03:59, 5 May 2024 (UTC)

@Vaticidalprophet: According to google scholar Caroline Cossey is often cited as having XXXY including in very well respected journals. It also seems like XXXY can result in functional behavior 1 "mild intellectual disability with learning difficulties." This source does support that XXXY causes more severe developmental delays. "IQs generally range between 40 to 60, with greater deficits in daily living skills, communication, and socialization when compared to 48,XXYY," and Males with 48,XXXY present with significant cognitive and behavioral problems as each extra X reduces the overall IQ by 15 points. I think maybe merging the section of Caroline Cossey into a new section in history, with "according to," while describing the usual phenotype herself in relationship to the condition could be useful. Thoughts? I removed the notable people section in the meantime. Des Vallee (talk) 23:11, 5 May 2024 (UTC)