Talk:Klinefelter's syndrome

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talk:Klinefelter's syndrome/archive 1

Contents

[edit] Mortalitiy

The JCEM this weeks has a longitudinal study on mortality: http://jcem.endojournals.org/cgi/content/abstract/90/12/6516?etoc. Do we include this? JFW | T@lk 14:51, 6 December 2005 (UTC)

It's interesting the increased mortality in those studied resulted from 'most major causes of death'. Some studies have shown a connection between overall health decay and frequent high levels of emotional stress (http://stress.about.com/od/stresshealth/). Diagnosed XXY males have been noted for greater vulnerability to stress from adverse environments.
Interesting hypothesis. Has it been studied prospectively? JFW | T@lk 03:47, 5 February 2006 (UTC)
Interestingly, I found a survey of Klinefelter's article published in Orphanet Journal of Rare Diseases that cites this JCEM article. What was interesting was that in its Complications section, it cited the most catastrophic Standardized Mortality Ratio (for mosaic 47,XXY males) of greater than 200-fold increase (weirdly, this stat had a really good P value, but a gigantic confidence interval - not something I'm used to seeing, but yes, CI and P are not necessarily in lockstep) over normal XY males as a general risk increase for all Klinfelter's men.
What was odd about this is that in the discussion of the JCEM article (I saw it in JNCI instead), the risk increase is instead argued as 60-fold, so I commented on (the comment is in moderation review now) the Orphanet survey article, asking for the rationale of quoting the catastrophic 200-fold value (which is actually fairly euivalent to normal female risk vs normal male) instead of the discussion's 60-fold figure. If an answer from authors/journal is forthcoming, I'll post about it here. --MalcolmGin 18:24, 30 March 2007 (UTC)
Makes sense. alteripse 22:12, 30 March 2007 (UTC)

[edit] Some good references

This article needs a lot of work.

These current medical genetics reference textbooks have good information that could help:

  • Firth, Helen V.; Hurst, Jane A.; Hall, Judith G. (2005). Oxford Desk Reference: Clinical genetics. Oxford: Oxford University Press, pp. 496-497 ISBN 0-19-262896-8
  • Graham, Gail E.; Allanson, Judith E.; Gerritsen, Jennifer A. (2007). "Sex chromosome abnormalities", in Rimoin, David L.; Connor, J. Michael.; Pyeritz, Reed E.; Korf, Bruce R. (eds.): Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed. Philadelphia: Churchill Livingstone Elsevier, pp. 1044-1047 ISBN 0-443-06870-4
  • Milunsky, Jeff M. (2004). "Prenatal Diagnosis of Sex Chromosome Abnormalities", in Milunsky, Aubrey (ed.): Genetic Disorders and the Fetus : Diagnosis, Prevention, and Treatment, 5th ed. Baltimore: The Johns Hopkins University Press, pp. 306-312 ISBN 0-8018-7928-0
  • Simpson, Joe Leigh; Graham Jr., John M.; Samango-Sprouse, Carole; Swerdloff, Ronald (2005). "Klinefelter Syndrome" in Cassidy, Suzanne B.; Allanson, Judith E. (eds.): Management of Genetic Syndromes, 2nd ed. Hoboken NJ: John Wiley & Sons, pp. 323-333 ISBN 0-471-30870-6

Panda411 06:05, 23 March 2007 (UTC)

Thank you!
I'm working on an article-related biblio myself, which I'll put here or in the main article soon. --MalcolmGin 15:16, 23 March 2007 (UTC)


[edit] Use of sex/gender terminology as interchangeable in this article may be problematic

This terminology discussion I'm about to bring up comes primarily from from sex/gender queer/trans theory, but the idea is that if we're talking about the phenotype (i.e. the body's expression of the genotype, the biological body), then we should be using the terminologies for biological sex (i.e. male/female/intersex), and that if we're talking about the social construction of gender as interpreted from the person's phenotype and other secondary sex characteristics, we should be using the terminologies for gender (i.e. man/woman/transgendered).

I note that in the main article, the first paragraph of "Signs and Symptoms" currently talks about how many of the risks associated with the "far end of the spectrum" (does this mean folks with severe expressions of Klinefelter's Syndrome?) are shared with women. If we were to use this careful gender theory terminology, we should change the word to "females", not "women".

Is this kind of discussion of terminology meaningful or helpful in this context? I know that Wikipedia strives to be authoritative and inclusive, but I know also that cross-training across disciplines like medicine versus gender theory only really works if everyone's on board and wanting to make it work, and I know that this article specifically is much more oriented towards medicine/medical theory right now than towards gender theory. --MalcolmGin 18:05, 23 March 2007 (UTC)

[edit] Marked all areas where a citation is needed

There are quite a few, and some of them sound spurious, so we should provide citations or delete those assertions.

Still working on putting together meaningful research, but as I put the citations together, I'll try to replace these things with citation-friendly "facts"/interpretations. If my findings seem to signficantly diverge, I'll put together an "alternative viewpoint" or "nontreatment" or some other such section that can ride along with the body of the current article until someone more gutsy than I merges it. :) --MalcolmGin 00:24, 24 March 2007 (UTC)

[edit] I'm going to wikilink "psychosocial morbidity" because to a layperson it sounds a lot worse than it actually is

I think we need a short article in the Wikipedia about "psychosocial morbidity" to make it clear that it doesn't actually mean "death" in the literal sense and that no terminal illness is anticipated.

I'll handle the details of getting that up to a stub, at least. --MalcolmGin 12:41, 24 March 2007 (UTC)

Scratch that idea. I found Psychosocial and added a section there and linked instead to that section. I also edited Talk:Psychosocial and gave some justification for doing it.
Depending on editorial choices, it may still be a better idea to move "psychosocial morbidity" to Wiktionary and move our reference to that. I'm currently not comfortable enough with the editorial direction/mission of Wiktionary to know whether there should be specialized medical terms there or not, and I also don't know what consensus direction Psychosocial is likely to take. --MalcolmGin 14:18, 24 March 2007 (UTC)

[edit] archived

I move some of the older discussion, and some of the less edifying recent discussion to and archive page, linked above. I preserved the above sections which contained either relevant recent suggestions or topics for discussion, or good references. alteripse 22:50, 24 March 2007 (UTC)

[edit] First set of photos at commons for body morphology project

It may be in the archives by now, but I'd mentioned wanting to provide a commons-hosted, freely re-usable set of phenotypical morphology pictures for males. Styled along the lines of the kinds of clinical pictures I've seen elsewhere, the goal is for each subject to allow 10 photographs of his clothed and torso-naked body to be taken while standing. I'm collecting very light amounts of metadata (age, height, weight, any medical info the subject wants to share), anonymizing the subject's identifying marks, and getting people to participate by photographing friends and acquaintances according to the same scheme.

Though I've had some incident of "Hey, that's a great idea!", I haven't seen any other picture sets come in yet.

However, in case anyone's interested in keeping an eye on the effort/using the pictures, by all means, that's what they're there for. The index is probably the most usable page for watching, but you might also consider watching the Commons:Category:Body morphology project. --MalcolmGin 16:54, 26 March 2007 (UTC)

The second set is now up, and the scope has changed to include all bodies. More definitely on the way as I drum up more "business". --MalcolmGin 02:13, 8 April 2007 (UTC)

[edit] Have found some interesting but not entirely helpful information out with respect to X-Inactivation/Lyonization in Klinefelter's and our need for citations

Only our article seems to assert (from what I've found so far) that the syndrome's symptoms derive from genetic expression on the paired Y chromosome. I can't so far find any article/review that substantiates that. Any idea where that came from/who inserted it? Maybe they have a citation we can use.

So far, I've found only two other major themes that talk about how X-Inactivation works with respect to XXY males and the only one that seems to provide an explanation is that the X-Inactivation for XXY males is incomplete or skewed. The other seems to gloss the explanation.

So the round-up is as follows:

Sources for incomplete/skewed X-Inactivation:

Sources that are non-commital/talk about other mechanisms that are in common with normal females (like Barr bodies and vague mentions of partial inactivation, or random X-Inactivation etc.):

Sources for complementary Y genes:

  • This article.

I think we may need to belly up to the bar and produce some good citations here. On my first pass, I got nothing, but I haven't really thoroughly searched PubMed or gone to a library. Can anyone else help find citations for this? Remember, Wikipedia does not allow original research, and this assertion stinks of it. --MalcolmGin 02:11, 8 April 2007 (UTC)

I dropped a note on Maveric149 (talk • contribs)'s talk page asking about a citation. He was the first author on this article and made the assertion on his first edit. Hopefully we'll hear mroe soon. --MalcolmGin 12:46, 8 April 2007 (UTC)
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