Talk:Klinefelter syndrome

Female phenotype with XXY not mentioned

There is nothing in this article about females who have XXY. I found two sources that comment on it. Can maybe someone update this? http://www.reproductivemedicine.com/toc/auto_abstract.php?id=21954 http://www.ncbi.nlm.nih.gov/pubmed/1483688 — Preceding unsigned comment added by 24.16.41.63 (talk) 22:00, 31 July 2011 (UTC)

Indeed, I've just found out that a friend is, and it would be very difficult indeed to convince me that she's not female. This article is very, uh, spare. More details?

"The article is about Klinefelter's syndrome, and everybody with Klinefelter's syndrome is male, period.

Why not make a page about medically proven and verifiable XXY females? I know at least 2 exist, there's bound to be more somewhere, and if somebody's transsexual friend wants to claim XXY, let her prove it, with facts that can be checked by anybody looking. That's an excellent idea, go for it I say. But this page needs a huge amount of work on it before it's acceptable to the truth. Repeating a lie 10,000 times doesn't make it true. So it doesn't matter of you can find thousands of links to support what's here, when they're all in error.

Klinefelter's syndrome is the symptoms of a disease called seminiferous tubule dysgenesis. Whoever won't let that information be on the first line also won't let the type of hypogonadism we have be listed either, you know hyperdonadtropic hypogonadism, that comes about because of atrophied testes, which this fellow describes as 'micro-orchidism.' The way this page reads the syndrome causes the genetics, but in reality the genetics cause the syndrome, eventually, the syndrome that Harry Klinefelter's described, but not in all individuals.

Klinefelter's syndrome is not in intersex condition and never will be."

Graeme XXY

   — Preceding unsigned comment added by Graeme XXY (talk • contribs) 18:43, 22 May 2013 (UTC) 

--68.126.150.83 (talk) 03:51, 14 September 2011 (UTC)

And, given this initial male or female phenotype, what is the incidence of transsexualism (MtF and FtM) among people with this chromosomal abnormality? One would assume it would be greater than among us XX and XY folk. — Chameleon 10:23, 15 June 2012 (UTC)

I'd think that XXY females would be more similar to XY females, since both cases are due to androgen insensitivity. In both of those cases, it sounds like the Y-chromosome genes result in the internal development of testes rsther than ovaries, but because the individual's cells do not respond to testosterone at all, the fetus continues to develop outwardly as female. In that case, if there are good enough sources then they might be worth mentioning, but it sounds as though those are cases of androgen insensitivity causing female development. Unless there are significant ckinical differences between 46,XY and 47,XXY androgen insensitive females, most of that information would probably be more relevant to the article on androgen insensitivity, but input from an expert (or at least someone with a background in either fetal development or endrocrinology) would be better to determine the differencss involved. If androgen insensitivity shares the same prevalence in 47,XXY as in the general population, those individuals would be very rare and thus the literature might be rather sparse.

As for prevalence of transgender individuals, what might be assumed is rather pointless speculation. Is there any documented evidence, preferably published in a peer-reviewed journal or by a medical specialty society that discusses this? I'm not aware of any studies on Klinefelter's that have mentioned it. My (admittedly limited) understanding is that intersex condtions and transgendered individuals are two completely separate issues, but like I said, better to find authoritative sources than to assume anything.Hyperion35 (talk) 17:59, 18 August 2012 (UTC)

Specific intersex conditions are rare, and so are trans people, and similarities and overlap between the two have traditionally been ignored. As a result, any evidence you're wanting will be hard to come by, and it's an obscure field anyway. (My understanding is that trans people have a higher rate of intersex conditions than the usual 1-2%, but I'm not sure of the figures, and I'm not sure anyone has them.)

As for a perception that intersex conditions and trans people are separate, it's very difficult to defend such a perspective unless you choose to perceive trans people as mentally ill or similar (they're not, and conditions like GID are falling into disrepute), because the reasons for their gender variance have to come from somewhere. Intersex conditions are viewed as "legitimate" because they appear outwardly or can be tested easily; trans people have been viewed as "unnatural", because their differences can't be tested (or, couldn't previously). The pathologisation of gender variance has led to intersex individuals being exempted from the criteria for psychiatric diagnosis, but there's mounting evidence that trans people have intersex brain structure. (Zoe Brain has been compiling such research, you may find it useful.)

What it boils down to is this: Unless you're working in the field and want to do some research, you aren't going to find hard evidence regarding Klinefelter's and trans individuals - Caroline Cossey has Klinefelter's, and there are probably stories or case studies about other individuals with Klinefelter's transitioning, but it'll be limited to that, and as stated, such people aren't usually going to be labelled as trans. A lot of trans people don't medically transition, and even for those who do, it isn't standard to test them for intersex conditions, of which there are hundreds if not thousands (and due to the history of the psychiatric community exploiting trans patients, the relationship between them is poor and most research has been severely flawed). Dismissing the matter due to a perceived difference between trans and intersex people reflects the inadequacy of 20th Century science, rather than anything concrete. Hope that helps. --217.28.10.31 (talk) 09:58, 28 August 2012 (UTC)

Move?

The following discussion is closed. Please do not modify it. Subsequent comments should be made on the appropriate discussion page. No further edits should be made to this discussion.

---

The actual name seems to be "Klinefelter syndrome" without the "'s". I'd like to move it, but the software seems to be choking on it for some reason. Anyone have any objections? WLU (t) (c) Wikipedia's rules:^simple/_complex 14:19, 2 November 2012 (UTC)

Both seem to be used but PubMed returns twice as many results for the Klinefelter syndrome as it does for Klinefelter's syndrome so your suggestion makes sense to me. --Anthonyhcole (talk) 16:43, 2 November 2012 (UTC)

Heh, and I should have linked the hopefully-authoritative MeSH page which uses no possessive, along with the other sources I would consider authoritative - the two NIH pages, plus all 61 articles written by Anders Bojesen - whom I would expect to have some expertise :) WLU (t) (c) Wikipedia's rules:^simple/_complex 17:18, 2 November 2012 (UTC)

Your suggestion seems reasonable to me as well, and authoritative sources not using a possessive s certainly adds significant support to your suggestion...per WP:MEDMOS#Naming conventions. Flyer22 (talk) 20:11, 2 November 2012 (UTC)

Agree

	No pubmed hits
Klinefelter	3717
Klinefelters	9
Klinefelter's	1752

p = 0.05 (talk) 21:22, 2 November 2012 (UTC)

• Agree ICD-10, NIH, and WHO do not use the possessive.Novangelis (talk) 22:19, 2 November 2012 (UTC)
• Done Doc James (talk · contribs · email) (if I write on your page reply on mine) 22:28, 2 November 2012 (UTC)
• Question: Now that the article has been moved, does anyone mind if we add "or Klinefelter's syndrome" to the lead...per Wikipedia:TITLE#Treatment of alternative names? Flyer22 (talk) 22:52, 2 November 2012 (UTC)

• Go for it. --Anthonyhcole (talk) 01:54, 3 November 2012 (UTC)

• Okay, I did it, although someone may feel that it's better to use parentheses somewhere in there. Flyer22 (talk) 02:24, 3 November 2012 (UTC)

I am glad to see the new article title. In general, recent texts tend to avoid the possessive form with these eponymous syndromes. I don't think that the possessive form really needs to be added as an alternative title. Axl ¤ [Talk] 10:17, 3 November 2012 (UTC)

I only suggested the alternate title be included in the lead because of the title policy I cited above. The policy states that it should be mentioned somewhere in the article. And in this case, it's better to mention in the lead than lower in the article. Basically, the alternate name is widely used and having it in the lead lets readers know that it's not incorrect spelling; it also lets readers know that they've arrived at the right article. That stated, I'm sure that most won't think that they've arrived at the wrong article simply because of the absence of the possessive s; after all, that's why the possessive form redirects here. So I don't much mind if the alternate title is removed. Flyer22 (talk) 14:37, 3 November 2012 (UTC)

Okay, fair enough. Axl ¤ [Talk] 16:50, 3 November 2012 (UTC)

The discussion above is closed. Please do not modify it. Subsequent comments should be made on the appropriate discussion page. No further edits should be made to this discussion.

Pictures

Hello, wikipedians. According to the article, the disease can look different physically from person to person. So, would it be a good idea to add more pictures of those diagnosed, with a range of body types, to show consistencies and variances from person to person? Input is appreciated.--68.226.21.39 (talk) 20:41, 7 December 2012 (UTC)

Recent edits by BeyondXXY,Inc

This diff shows the proposed revisions to the page: [1]

The main concerns with this content are:

• use of primary sources (please see WP:MEDRS)
• use of fringe theories to contradict mainstream, reliable sources already in the article, and creating undue weight and bias towards a particular point of view (please see WP:UNDUE and maybe also WP:FRINGE). Lesion (talk) 20:25, 28 August 2013 (UTC)

Klinefelter, Harry F. "Klinefelter’s Syndrome: Historical Background and Development." Southern Medical Journal 79.9 (1986): 1089-093. Http://47xxy.com/. Vaughn Hambley. Web. 12 Aug. 2013. <http://47xxy.com/Sitedocs/hkline.pdf>.​​

http://www.reproductivemedicine.com/toc/auto_abstract.php?id=21954

http://www.rightdiagnosis.com/s/sex_chromosome_conditions/intro.htm

Herlihy, Amy, and Lynn Gillam. "Thinking Outside the Square." International Journal of Andrology 34 (2012): 348-49. Polare 93: Thinking Outside the Square. June 2013. Web. 31 July 2013. <http://www.gendercentre.org.au/resources/polare-archive/archived-articles/thinking-outside-the-square.htm>.​​

Kumarasamy Thangaraj, Nalini J Gupta, Baidyanath Chakravarty, Lalji Singh. "A 47, XXY female." The Lancet, Volume 352, Issue 9134, Page 1121.<http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(05)79762-2/fulltext>.

Röttger, S., K. Schiebel, G. Singer, S. Ebner, W. Schempp, and G. Scherer. Röttger, S., K. Schiebel, G. Singer, S. Ebner, W. Schempp, and G. Scherer. "An SRY-negative 47,XXY mother and daughter." Cytogenetics and Cell Genetics 91.1-4 (2000): 204-07. National Center for Biotechnology Information. U.S. National Library of Medicine, 2001. Web. 12 Aug. 2013. <http://www.ncbi.nlm.nih.gov/pubmed/11173857>.​​

http://www.hopkinschildrens.org/intersex/synd_abn_sex_diff.pdf

Schmid, M. 47,XXY Female with Unusual Genitalia. Human Genetics 90.4 (1992): 346-49. National Center for Biotechnology Information. U.S. National Library of Medicine. Web. 12 Aug. 2013. <http://www.ncbi.nlm.nih.gov/pubmed/1483688>.​​

Somers, Chris, Riebel, Tracy, Whyatt, David. "Intersex and Androgyny and Implications for Provision of Primary Health Care."Tech. OII Australia Intersex Australia, n.d. Web. 02 Aug. 2013. <http://oii.org.au/6234/chris-somers-xxy-tracy-reibel-david-whyatt-intersex-androgyny-implications-provision-primary-health-care/>.​​

http://www.abc.net.au/science/slab/intersex/default.htm

This should be enough to get you started, but I have more. Definitely not a fringe idea. I am merely attempting to edit the article to make it current.CAWilson52 (talk) 21:06, 28 August 2013 (UTC)

Thanks for these... right off the top, unfortunately, none of these sources appear to be the kinds of things we look for in sourcing biomedical information on Wikipedia. WP:MEDRS is the sourcing guideline. These are popular press, case studies, advocacy sites, opinion columns and out-of-date publications (see WP:MEDDATE). I'd like to hear the opinions of the other WP:MED scope editors but I'm not seeing here what we normally look to use. Zad68 21:13, 28 August 2013 (UTC)

I agree with Zad68. I actually wouldn't mind having the Lancet and the other couple peer-reviewed papers as sources for a single sentence, as in "Cases of 47,XXY individuals with female phenotype have been reported, mostly due to concurrent SRY mutations." but not more.--cyclopia^speak! 21:30, 28 August 2013 (UTC) (The existence of SRY-mutated XXY females is mentioned at SRY, btw) --cyclopia^speak! 21:32, 28 August 2013 (UTC)

Please note that although this one is housed on an advocacy site it is from the SOuthern Medical Journal and Dr. Klinefelter himself stated, "Eighty percent of these patients have positive sex chromatin, and their karyotypes may vary widely, with many mosaics (Fig 8)."

CAWilson52 (talk) 21:45, 28 August 2013 (UTC)

Mentions of 47,XXY case reports

The following content has been proposed to be added to the article:

Rare cases of 47,XXY individuals with female phenotype have been reported, sometimes due to SRY concurrent mutations.

References

I'm not sure this is the right thing for this article. These are individual case reports, the newest of them is from 2005, and several of them do not even describe their cases as instances of Klinefelter exactly. We currently have more recent secondary sources covering Klinefelter. If these primary case reports were indeed relevant to Klinefelter, the newer secondary sources should pick these up and cover them. Do they? If there are indeed 47,XXY cases that are included within the definition of Klinefelter we should include them sourced to the secondary sources. If they aren't covered by the secondary sources, this new content is related to something else, but not Klinefelter exactly. They should (probably) be covered by Wikipedia but not in this article, but I haven't dug into this subject enough to know what article they should go in. Any comments/ideas? Zad68 13:03, 29 August 2013 (UTC)

To clarify: The issue is that secondary sources define "Klinefelter syndrome" as something that affects males, and these case reports cover females. There may be something very similar going on in these case reports but it wouldn't technically be "Klinefelter syndrome", at least not how it's currently defined. Options are: Find sourcing to support adding this material in a new section in this article, being careful to explain such cases fall outside the definition; find another article for this content; create a new article. Not sure which. Zad68 13:16, 29 August 2013 (UTC)

Hi Zad you could have a look at Disorders of sex development (DSD) which could added as the main article for this topic dolfrog (talk) 13:56, 29 August 2013 (UTC)

I think that such reports should be somewhere -they are multiple and quite well sourced, even if are case reports and not reviews. I agree it is unclear if they fall under Klinefelter however -I can't access the papers now but probably I'll be able to in the next days.--cyclopiasp^eak! 14:54, 29 August 2013 (UTC)

Thanks folks, this is good input. I like Dolfrog's suggestion to locate the content at Disorders of sex development, at least for now, as a higher level of abstraction that can encompass both Klinefelter and these 47,XXY in females case reports. CAWilson52, would you be OK with that? Looking forward to your findings, Cyclopia. Zad68 15:18, 29 August 2013 (UTC)

For now perhaps we could put it in a footnote, also to soothe WP:UNDUE concerns? I see it well this way:

This chromosome constitution (karyotype) exists in roughly between 1:500 to 1:1000 live male births[4][5][note 1]

note 1: Rare cases of 47,XXY individuals with female phenotype have been reported, sometimes due to SRY concurrent mutations.

Seems both a better location (it is in a place about the karyotype incidence and not the specific syndrome, and it cites sex explicitly) and a better due weight, to me.--cyclopia^speak! 15:27, 29 August 2013 (UTC)

Cyclopia is correct. They are multiple and well sourced. Of course they do not fit as Klinefelter because Klinefelter syndrome only affects Males. The multiple cases of 47,XXY females are all the more reason to not use the outdated term Klinefelter Syndrome since 1) not all XXYs are male 2) Not all XXY males have Klinefelter Syndrome and 3) Not all males with Klinefelter Syndrome are XXY or variant, some are XY. You have in your sources 2 pieces of literature that bear this out. 1) Understanding Klinefelter Syndrome by Robert Bock printed by NICHD where he plainly says: " I never refer to newborn babies as having Klinefelter's, because they don't have a syndrome," said Arthur Robinson, M.D., a pediatrician at the University of Colorado Medical School in Denver and the director of the NICHD-sponsored study of XXY males. "Presumably, some of them will grow up to develop the syndrome Dr. Klinefelter described, but a lot of them won't."

For this reason, the term "Klinefelter syndrome" has fallen out of favor with medical researchers. Most prefer to describe men and boys having the extra chromosome as "XXY males."

Further, the Southern Medical Journal referenced in the current Wiki on KS, Dr. Klinefelter himself states on page 1092:

"Eighty percent of these patients have positive sex chromatin, and their karyotypes may vary widely, with many mosaics. . .The other 20%) whose testes are not small, have XY chromosomes and should be studied further to determine etiology"

Then, of course, we add the pub med documents of XXY females:

A 47,XXY Female with Gender Identity Disorder Ashish Khandelwal • Ashish Agarwal • R. C. Jiloha

Röttger, S., K. Schiebel, G. Singer, S. Ebner, W. Schempp, and G. Scherer. Röttger, S., K. Schiebel, G. Singer, S. Ebner, W. Schempp, and G. Scherer. "An SRY-negative 47,XXY mother and daughter." Cytogenetics and Cell Genetics 91.1-4 (2000): 204-07. National Center for Biotechnology Information. U.S. National Library of Medicine, 2001. Web. 12 Aug. 2013. <http://www.ncbi.nlm.nih.gov/pubmed/11173857>.​​

Schmid, M. 47,XXY Female with Unusual Genitalia. Human Genetics 90.4 (1992): 346-49. National Center for Biotechnology Information. U.S. National Library of Medicine. Web. 12 Aug. 2013. <http://www.ncbi.nlm.nih.gov/pubmed/1483688>.​​

And there are more. These are just the 3 I have handy at the moment.

Thank you for discussing this as it is a very important issue to XXY people who are not male yet when doctors with poor information on XXY assume it is KS, they begin treating them with testosterone therapy and start cutting off breasts, inflicting a lot of damage through ignorance. Including XXY males and females in a DSD article is acceptable with the caveat that many people object to the term "disordered" as it medicalizes and pathologizes a genetic condition. CAWilson52 (talk) 15:37, 29 August 2013 (UTC)

Hyperion 35 above mentions the relation between trans and XXY. I have one source from NIH: http://www.ncbi.nlm.nih.gov/pubmed/23809495

This was published in the International Journal of Andrology in 2012: Herlihy, Amy, and Lynn Gillam. "Thinking outside the square considering gender in Klinefelter syndrome and 47, XXY." International Journal of Andrology 34 (2012): 348-49. — Preceding unsigned comment added by CAWilson52 (talk • contribs) 15:56, 29 August 2013 (UTC)

The trouble is, "Klinefelter Syndrome" is indeed still currently used by reliable source in the medical literature. For example, PMID 23118429 is a nice review article from January of this year discussing it, and using a PubMed search on that term. Google Scholar also shows over 2,000 items since 2012 using that term. One of the frustrations you might have in editing Wikipedia is that--by design--Wikipedia articles are "behind the curve." We report existing established scientific consensus. It may be true that the consensus is moving away from the use of the term, but until the sourcing clearly shows that it has been obsoleted in favor of a new term, Wikipedia will show it is in use, in accordance with how the reliable secondary sources treat the term. If we can find good sourcing showing that the definition of the term is being called into question, we could include that. Zad68 16:14, 29 August 2013 (UTC)

Zad68, I totally understand that and truly appreciate this discussion much more than I can tell you! Believe me, I am engaged in similar dialogues with almost all of these sources! I would be thrilled to see 47,XXY listed on the DSD page separately from KS on that page and have it mention that 47,XXYs from across all genders identify with the DSD diagnosis citing the sources I have listed above. CAWilson52 (talk) 16:21, 29 August 2013 (UTC)

By the way, you will likely run into the same thing in the future with Turner Syndrome (45,XO) because Turner is only females and yet there are males in the literature with the XO karyotype ...some have a piece of a Y on their X and some are XY/XO mosaics. They clearly are not Turner Syndrome, but are 45,XO people. I think this is why they are moving (slowly as with most systems changes) to identifying chromosomal "conditions" by the chromosomes as opposed to any syndromes or diseases that may result from them. CAWilson52 (talk) 17:08, 29 August 2013 (UTC)

GENDER IDENTITY IN KLINEFELTER’S SYNDROME

AND MALE HYPOGONADISM: FOUR CASES OF DYSPHORIA Dr John Parkinson [copyvio removed] CAWilson52 (talk) 20:00, 29 August 2013 (UTC)

Please don't copy and paste a full abstract, since it's likely a copyright violation. Just give us a link. --cyclopia^speak! 20:22, 29 August 2013 (UTC)

I have copyright permission for the full abstract given by Dr. Parkinson. The link is a pdf file on a blog, and I knew you would not consider it credible in that form. That is all I have at this moment, but by next week, my researcher should have the full pubmed article from the British Journal. But here is the link to the full paper by Dr. Parkinson on the blog of someone in the paper:

Parkinson, John. "Gender Identity in Klinefelter’s Syndrome (47xxy) and Male Hypogonadism: Six Cases of Dysphoria." : Gender Identity in Klinefelter’s Syndrome (47xxy) and Male Hypogonadism: Six Cases of Dysphoria. AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY. 2007. 3 May 2010. Web. 31 July 2013. <http://aboutthatx.blogspot.com.au/2010/05/gender-identity-in-klinefelters_03.html>.​​ CAWilson52 (talk) 21:07, 29 August 2013 (UTC)

What is my next action step? Discuss on the Disorders of Sex Development Talk page what I propose as an edit? CAWilson52 (talk) 21:09, 29 August 2013 (UTC)

OK I did discuss on the Intersex and DSD talk pages the addition of 47,XXY females and non Klinefelter XXYs. Then edited both to list them as conditions. Next, I created a new page entitled 47,XXY females and non-Klinefelter XXYs and submitted it for review. I am too new to move it to the new article page so it sits in queue awaiting review. Thanks all for the help and input. I feel very positive about this direction as being all inclusive of all XXYs. I would like to see the footnote in the Klinefelter Syndrome article as Cyclopia mentions and perhaps it can link back to the new page in creation 47,XXY females and non-Klinefelter XXYs CAWilson52 (talk) 16:40, 30 August 2013 (UTC)

Hi CAWilson52, let's just wait Zad68 to be sure, since he was involved in the discussion, and then if there are no objections we can insert the footnote -which for now seems enough to me. Thanks! --cyclopia^speak! 07:03, 31 August 2013 (UTC)

Hi back! Zad68 and cyclopia That sounds great to me! Also, can we discuss the possibility of if and when the new article "47,XXY Females and non Klinefelter XXYs " is added, the addition of a link in the top that says:" for 47 XXY females and non Klinefelter XXYs," please see <new article>? Also can either of you help me out with how to request my new page in development be moved to a discussion page as I am too new to move it? I read the directions and inserted the line I thought I was supposed to insert but do not see any changes. Maybe I am good. Sorry such a newbie!CAWilson52 (talk) 14:08, 31 August 2013 (UTC)

Thanks for being collaborative on this! The content at Disorders of sex development seems appropriate. I'm OK with the footnote as long as the footnote mentions that these presentations aren't considered "Klinefelter syndrome" under its current definition. If its definition changes in the future, as reported in reliable secondary sourcing, we can update it here. Another option would be a See also entry. Zad68 02:45, 1 September 2013 (UTC)

That sounds great to me, Zad68 and I appreciate the dialogue toward finding a resolution. cyclopia can you add the footnote? It is currently beyond my skill level. But one day, I shall be a pro wiki editor! ha ha! When,and if, the article on female XXYs and non KS XXYs is approved, we can add the "see also."

Also, might I suggest under variations in the Klinefelter article, where XXXY and XXXXY and mosaic XXY/XY are mentioned, it would be a good place to insert: The Southern Medical Journal (referenced in the current Wiki on KS) Dr. Klinefelter himself states on page 1092:

"Eighty percent of these patients have positive sex chromatin, and their karyotypes may vary widely, with many mosaics. . .The other 20%) whose testes are not small, have XY chromosomes and should be studied further to determine etiology" — Preceding unsigned comment added by CAWilson52 (talk • contribs)

Y I went ahead and added the footnote as described. It's a terrible mess to do because of some limitations of Wikipedia's ref-processing software, but it's in there, please feel free to touch up/correct. Zad68 04:38, 3 September 2013 (UTC)

Better yet, we can skip the cherry picking of material from out-of-date sources. The modern diagnosis is based on genetics, not phenotype, so such a statement is not accurate. Such an addition would be inappropriate.Novangelis (talk) 04:39, 3 September 2013 (UTC)

Feel free to revert the addition of the footnote... but are you saying that the definition of Klinefelter has been updated to no longer be restricted to males? The sources I've seen still say that, see for example this and PMID 23118429 to start. If that's not what you're getting at, please explain. The footnote points out that the same karyotype has appeared in case reports of individuals described as females, but they're not Klinefelter per se. If that's not accurate, how can we make it so? Zad68 04:52, 3 September 2013 (UTC)

I was saying that the 80% XXY positivity is hopelessly archaic. I had not assessed the footnote about the intersection of XXY and other disorders of sexual development producing a female phenotype, but it is minimally problematic, at most. The wording "sometimes due to SRY concurrent mutations" may be misleading. Without needing another source I would probably go with something on the order of "Concurrent defects in the [[SRY|sex-determining region of the Y chromosome]] or [[Androgen insensitivity syndrome|androgen insensitivity]] have been identified in some cases." It gives a brief functional description of the loci and does not imply absence of causation by known cause from absence of detection. (For example, the 1992 case report describes no structural defects in SRY locus—not the most sensitive technique.) I'll keep looking for an appropriate secondary source, but I'm not holding my breath. — Preceding unsigned comment added by Novangelis (talk • contribs)

Great, I'll take "minimally problematic, at most" any day of the week! Any suggestions to improve the clarity of the wording are welcome. I like your suggested content concerning the SRY defects and it'd be great if you could locate such a source to cover it. Zad68 13:21, 3 September 2013 (UTC)

Here is one on XXY female, androgen insensitivity http://www.ncbi.nlm.nih.gov/pubmed/19732585

And this one compares XXY females with KS but says there is no collection of symptoms common to all 47,XXY females to name it a syndrome and to fit it in with KS...which is great because a 47,XXY female does not want the "treatment" with testosterone that a KS/XXY male would want.http://www.ncbi.nlm.nih.gov/pubmed/21540567

This one is XXY female with GID http://www.ncbi.nlm.nih.gov/pubmed/20464469

This one is " SRY-negative XXY female with Yp deleted Y fragment on the short arm of chromosome 22, resulting in der(Y;22)."

http://www.annclinlabsci.org/content/40/3/295.full

http://www.ncbi.nlm.nih.gov/pubmed/11014948?dopt=Abstract XY/XXY female sry negative

http://jmg.bmj.com/content/16/6/480.abstract?ijkey=99dab86002e431b8f9061f3de00ebbf978749371&keytype2=tf_ipsecsha "A case of complete testicular feminisation and 47,XXY karyotype." this one belongs to a family with 4 others have XY with Morris Syndrome

CAWilson52 (talk) 14:49, 3 September 2013 (UTC)

Am I the only person who sees the problem with this: "Better yet, we can skip the cherry picking of material from out-of-date sources. The modern diagnosis is based on genetics, not phenotype, so such a statement is not accurate. Such an addition would be inappropriate.Novangelis (talk) 04:39, 3 September 2013 (UTC)"??

It incorrectly assumes all persons with a karyotype 47,XXY are KS regardless of phenotype?? And assumes all 46,XY do not have KS regardless of phenotype? KS is a specific phenotype that is incorrectly applied to all 47,XXY people because of genetics. Or am I totally misreading the statement? KS is not a chromosomal aberration, but a specific disease process that would only affect XXY males. XXY females would not consider breasts gynecomastia or problematic nor could they be considered to have hypogonadotrphic hypogonadism and need testosterone therapy. The higher estrogen and prolactin levels would not be a problem for a female XXY.CAWilson52 (talk) 15:13, 3 September 2013 (UTC)

I'm sure that the rest of your advocacy group might go along with you, but Wikipedia is not an advocacy group. The diagnosis of Klinefelter would never be made when a standard 46,XY karyotype is present in all metaphases examined, so the 80% is just quote mining. Even with a Klinefelter phenotype and 46,XY where the X is atypical, the diagnosis of Klinefelter is not made, even if it is treated identically.[2] When more than one syndrome is present, the criteria for each are likely to break down. This invalidates none of the involved conditions, nor does it constitute a new syndrome if there are no established features.Novangelis (talk) 16:22, 3 September 2013 (UTC)

No need for wisecracks either. We can move beyond the 80% issue. What I mainly objected to is the tendency for medical professionals to boil the whole issue down too simply to say all XXY is KS, because of genetics. However, as the case studies demonstrate, when you look at the genetics, more is involved than a simple addition of an X chromosome. If there are SRY deletions or AIS or other genetic factors present, you have an XXY Female. Would AIS XXY be a part of Morris Syndrome?CAWilson52 (talk) 17:29, 3 September 2013 (UTC)

There are millions of cases of XXY Klinefelter. There are some cases of the variant karyotypes. There are dozens of cases where there is a second genetic abnormality of sexual development, and as you said, none of them constitute a syndrome. Since this article does not say that all 47,XXY is Klinefelter, this should be done.Novangelis (talk) 18:04, 3 September 2013 (UTC)

I wished to notify you Zad68 and cyclopia about NIH updates clarifying that KS and XXY are not interchangeable terms. I received an email from Erica Baronne, Information Specialist at GARD (Genetic and Rare Diseases Informatio​n Center) at NIH about the changes today:

We have reviewed the terminology associated with these conditions and have also conducted a thorough review of our available resources. We decided to create a separate term and Web page for “47, XXY” to reflect that Klinefelter syndrome and 47, XXY are not necessarily interchangeable terms. We also created the broader term “Numeric sex chromosome variations” which includes many of the conditions that some refer to as “Klinefelter variants.” We edited our information to remain more gender-neutral and acknowledged that gender identity should be considered and explored before starting treatment (we touched upon this on the main disease pages and were more specific on our treatment page).

You can click on the following link to view our updated Web page on Klinefelter syndrome:

http://rarediseases.info.nih.gov/gard/8705/klinefelter-syndrome/Resources/1

You can click on the following link to view our new Web page on 47, XXY:

http://rarediseases.info.nih.gov/gard/11920/47-xxy/Resources/1

I do believe this meets the requirement above:

 If we can find good sourcing showing that the definition of the term is being called into question, we could include that. User:Zad68 

Best! CAWilson52 (talk) 20:27, 20 September 2013 (UTC)

Given this disclaimer, there is no basis to contradict the published literature. The external source cited by those pages is a 2013 review article from a journal in a relevant discipline. In the article, the first live of the introduction opens: "47,XXY or Klinefelter syndrome". We are not going to contradict such a source based on one website.Novangelis (talk) 15:41, 23 September 2013 (UTC)

References

English chart captions for English Wikipedia

Can someone please make an English-language version of this chart for this Article? It is perfectly well and good that this very file is used over at the Italian Wikipedia, but we also need an English version for the English Wikipedia. The Mysterious El Willstro (talk) 07:07, 4 November 2013 (UTC)

Hi, I am Italian. I don't have time now to make a proper English language version, but if anyone's interested, the top two lines say: "Klinefelter Syndrome - postnatal diagnosis". The word "anni" in the legend means "years" (in the sense of age). --cyclopia^speak! 11:08, 4 November 2013 (UTC)

I was perfectly aware of the translation, but I appreciate it. :-) I am asking, as a matter of consistency, that a chart on the English version of Wikipedia (Wikipedia does have versions in other languages as I'm sure you already know) be captioned in English. It is still a matter of consistency even in a relatively simple case where many English speakers can figure out the translation on their own. The Mysterious El Willstro (talk) 06:16, 18 November 2013 (UTC)

Fixed. W·n·C? 17:27, 13 May 2016 (UTC)

Afd: proposed deletion of Non-Klinefelter XXY, and gender issues in XXY

Persons watching this page may be interested in the proposed deletion of the page Non-Klinefelter XXY, see Wikipedia:Articles for deletion/Non-Klinefelter XXY.

While I cautiously supported deletion of that page, I believe that the issues highlighted in that article need to be reflected on this page. Deletion was proposed due to WP:OR and WP:NPOV, but the proposer also commented that the definition of Klinefelter has "no sharply defined boundaries". It's clear that a sharp boundary is actually what prompted creation of this separate page, and that's a definition of Klinefelter that is intrinsically based on gender identity, as being a diagnosis in men. There is evidence of clinical discussion of this issue, see for example Herlihy and Gillam (2011) Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY, in International Journal of Andrology. While this is a medical article, medical treatment intersects with human rights issues. Consequential treatment paradigms for people with 47,XXY have so been discussed in the Australian Senate, see discussion of the inquiry report Involuntary or coerced sterilisation of intersex people in Australia by Senator Rachel Siewert on 25 March 2014 talking about a case in an inquiry submission here. Trankuility (talk) 00:10, 13 April 2014 (UTC)

can we remove the prejudice in the article please?

In various places throughout this article the individual is labelled as a XXY male, yet the last time I checked, males were XY and females were XX. the XXY variant cannot be classed as male or female except in the case of self determinism. even if the label of 'male' is due to the genitalia, we still have to concede that the article is particularly weighted with phrases such as "extra X chromosome". this is clear prejudice, since nobody can claim that the original sperm was meant to be X or Y. in cases of the egg retaining the extra chromosome this is all very fair and just ok and fine and dandy, but in the case of the sperm causing the extra chromosome, the article really NEEDS to state extra X or Y chromosome to remain unbiased. Even when we consider the various medical research that is being conducted. there is a particular study where they confirmed that ovaries have to fight to remain ovaries, and they also managed to turn ovaries into the equivalent of testes by flooding with testosterone. The presence of a Y chromosome in any person that may have originally been female would create a person with testicles and so automatically labelled male. even though they are supposed to be female. We need to stop loading our terms from this patriarchal perspective. If we consider the definition of male as a person capable of fertilising an egg, then all klinefelter people are categorically not male anyway. not from a technical standpoint. The question has been raised abut trans individuals. I am trans and I suspect Klinefelters due to my youthful looks and low T and FSH levels. I am very definitely FEMALE despite what my gonads did. Male and female should not just be down to one part of teh body. our society is too focused on the phallus. 31.55.1.72 (talk) 12:49, 15 April 2014 (UTC)

I agree the article should be unbiased, and inclusive of non-binary identities and phenotypes. Doing this while maintaining succinctness and readability is difficult, but not impossible. Be mindful that as the presence of Y will generally repress Müllerian development (i.e female is the 'default' for all humans, functional AMH triggers 'maleness'), so the position of male being the norm in this scenario is etiologically appropriate. Millionmice (talk) 01:34, 28 August 2014 (UTC)

succinctness and legibility should be secondary to accuracy. It is not merely the presence of Y that would result in a male phenotype SRY gene is not the sole responsible gene for androgenous development. Research is still ongoing and there are also many other syndromes that result in androgenous development that do not assume an androgenous phenotype. PCOS for example. The point is, there is no grounds for including an assumption in a wikipedia article. The fact that XXY females are cited in many studies is grounds enough to maintain gender balance in the article and not bias towards male. The fact that an XXY could be either male or female is the only fact that is important when presenting this syndrome to readers. The fact that the resultant embryo could have easily been male or female had the split occurred, is what is important. There is a 25% probability that the embryo would have been female. This warrants the article being written in the manner that assumes the XXY individual could be either a male with extra X or a female with additional Y. This is facts. wikipedia operates on facts. not assumptions. 90.244.167.111 (talk) 22:00, 28 August 2014 (UTC)

The article is 'Klinefelter syndrome', not Non-Klinefelter_XXY. Syndromic descriptions are based on majority phenotype. The archetypal phenotype is early mullarian inhibition. Hence physiologically the majority function as XY with an extra X. I'm unclear on why the origin of each chromosome is meaningful to the syndrome. I did not mean to imply succinctness should be secondary to accuracy, just that mentioning gender non-binary more than once is unnecessary. Millionmice (talk) 23:31, 28 August 2014 (UTC)

I see your point with the separate article and I concede to the consequences of that, however it is important that the article not falsely imply that the embryo is a result of specifically a male with an extra chromosome, when the cause of the syndrome is non conclusive as to the projected karyotype of the resultant embryo if the split had occurred correctly. One cannot say it is a male with extra chromosome or a female with extra chromosome. In the case where the sperm is a single Y chromosome, we can confirm that the embryo would have been a boy either way, but with an XY sperm there is no way to specify so we cannot claim it is a male with extra or a female with extra. physiology may be most important when describing phenotype, in this case the description of klinefelters as XXY males may be considered correct, however to say it is a male with an extra X is incorrect as we cannot specify which chromosome is the extra one. This may be a XXY male who was a female with a Y chromosome making this individual a male phenotype. Logically speaking, We can't say either "male with extra X" or "female with extra Y" since we cannot predict what the outcome would have been in gestation had the syndrome not occurred. Would it be better to take the terms out completely or have equal balance? I'd be open to either option. The accuracy of this specific issue is very important, not only for the integrity of Wikipedia but it also has socio-political repercussions. 90.244.167.111 (talk) 00:00, 29 August 2014 (UTC)

I understand. But the notion of what the embryo 'would' have been does not help, as one could argue the cells are not male until male imprinting has occurred (i.e sperm does not determine 'femaleness' in all cases). The language should make a clear distinction between chromosomes, phenotype, and gender identity. Most attempts to clarify 'extra' blur these 3 concepts, despite attempting to delineate them (I've been watching the article a while). Maintaining the opening's brevity, physiologic accuracy, and appropriate gender neutrality clearly needs more than incremental edits. I'll have a shot at a sandbox rewrite. Millionmice (talk) 02:54, 29 August 2014 (UTC)

I will look forward to your rewrite. I would attempt it myself but my dyslexia makes extended writing very difficult. I see what you are saying about male imprinting. Even that is not a simple matter. For example, many transgender individuals have a brain with the physiology of a woman whilst possessing testicles of some form. Some possess mosaic genetics. This is why I believe the article requires absolute neutrality.90.244.165.67 (talk) 16:24, 31 August 2014 (UTC)

Treatment

There is no mention of androgen replacement therapy (ART), also called testosterone replacement therapy (TRT), which is used widely to give XXY males a more masculine appearance, and to develop puberty properly. — Preceding unsigned comment added by 2604:2000:EEA1:D000:3871:F81:A9AC:118C (talk) 20:01, 21 December 2014 (UTC)

Probabilities mismatch

Article mentions: K = 0.1-0.2% (I assume 0.2%) as the probability of a man having Klinefelter's. F = 7% from Male infertility is the probability of a man being infertile. X = 3.1% as the probability of an already infertile man having Klinefelter's, and from above numbers 0.22% of a man being both infertile and having Klinefelter's. Which is higher than 0.2%, a man having Klinefelter's and not necessarily infertile. So there's a big negative number of fertile men with Klinefelter's. Obviously, these numbers are off; it gets worse as F increases, and as K decreases from already exaggerated (assumed maximum of the range) value. I presume K may be much higher and many fertile XXY-males just... never get diagnosed. It's just a guess, but in any way these numbers have a really high error (10% at least, over 100% at most, and 33% when I take K as 0.15%). Does anyone know if it is normal in that kind of measurements? If yes, I believe it should be mentioned explicitly. — Preceding unsigned comment added by RomanXNS (talk • contribs) 19:32, 4 January 2015 (UTC)

Good spot. I agree using one significant figure without an error range is totally inappropriate. Age and the meaning/interpretation of 'infertility' make ballparking this stuff difficult/meaningless. See my comment on the Male infertility page, I think the 7% is suspicious. Not sure if this helps or muddies the water further, but in an unselected population of infertile patients 2.6% have Klinefelter syndrome, while in a population with terrible sperm 13.7% have Klinefelter syndrome (taken from http://www.uroweb.org/gls/pdf/16_Male_Infertility_LR.pdf). In short, I suspect all numbers you used apply to different populations, for example the 7% may include men over 70 who are unlikely to present to the Dr complaining of infertility to be included in the 3.1%. Millionmice (talk) 04:33, 5 January 2015 (UTC)

Most common

Which one is true? Klinefelter syndrome is the most common chromosomal disorder, and it occurs in 1:500 to 1:1000 live male births
Also, Down syndrome is the most common chromosome abnormality in humans,[3] occurring in about one per 1000 babies born each year.[2] 73.188.22.194 (talk) 04:44, 24 June 2015 (UTC)

Thanks yes. Should be one of the most common. Doc James (talk · contribs · email) 10:43, 24 June 2015 (UTC)

Vandalism

Can we get a lock on this for vandalism? I didn't come here to read about "Ben and Noah's farts." 2602:304:AF09:6099:A55B:39EF:D7B7:C759 (talk) 19:26, 17 November 2015 (UTC)

Autism and ADHD

The German version of the article mentions (with refs) that autism spectrum disorders (PDD-NOS mostly) and ADHD (usually inattentive subtype) are highly frequent among people with Klinefelter's, so much that some geneticists even list Klinefelter's among the possible genetic causes of autism. There's also a significantly elevated risk of schizophrenia and borderline, according to the article. I'm surprised that none of this is mentioned in the English edition. --Florian Blaschke (talk) 20:35, 26 November 2015 (UTC)

Contradiction regarding age of mother

At the start, the article says "Klinefelter syndrome usually occurs randomly. An older mother might increase the risk slightly."

Then later it says: "According to a meta-analysis, the prevalence of the syndrome has increased over the past decades; however, this does not appear to be correlated with the increase of the age of the mother at conception, as no increase was observed in the prevalence of other trisomies of sex chromosomes (XXX and XYY)."

There seems to be a contradiction here. I'm not familiar enough to know whether the age factor is a common conception, in which case it's worth referencing and citing, or whether the first statement should just be deleted. Jezzamon (talk) 10:28, 30 October 2016 (UTC)

This ref is from 2013 and says "Research suggests that older mothers might be slightly more likely to have a son with KS."[3]

So yes different sources say different things. Doc James (talk · contribs · email) 11:16, 30 October 2016 (UTC)

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Endocrine Reviews

doi:10.1210/er.2017-00212 JFW | T@lk 12:24, 8 August 2018 (UTC)

Non-human animals

I added the Non-human animals "stub" section. For example, K. syndrome is common in the male tortoiseshell and calico cat (which itself is very rare): Tortoiseshells and calicos, which unfortuantely lacks a relevant citation. Does K. syndrome occur in non-mammalian animals? I do not have enough knowledge to fill this section out. Acwilson9 (talk) 01:05, 9 January 2019 (UTC)

I feel like this article leaves out some information.

https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/klinefelter-syndrome

Like 60% of infants with Klinefelter syndrome don’t survive fetal period.

And sperm has been found in 50% of males with Klinefelter syndrome. https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/treatments

And around 80% to 70% have learning disabilities. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056507/ — Preceding unsigned comment added by CycoMa (talk • contribs) 14:35, 2 July 2020 (UTC)

The latter two will need secondary and/or tertiary sources per WP:MEDRS. EDIT: Ah, my mistake, I thought these were research articles. Refs look good to me IMO, feel free to add. Global Cerebral Ischemia (talk) 15:26, 2 July 2020 (UTC)

I noticed that someone deleted the prenatal section.

Someone deleted the prenatal section due to fact it wasn’t referring to any medical journals.

I have found more sources on miscarriage and Klinefelter syndrome.

It’s hard to find percentage of miscarriage associated with Klinefelter syndrome but judging by some sources there are connections.

https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/klinefelter-syndrome

https://www.invitra.com/en/klinefelter-syndrome/

This source mentions how only 40% survive prenatal https://emedicine.medscape.com/article/945649-overview#a6

I found one source that said termination was around 70% of infants.

https://academic.oup.com/molehr/article/16/6/434/1047589 — Preceding unsigned comment added by CycoMa (talk • contribs) 20:45, 11 September 2020 (UTC)

Lebenmit47xxy (talk) 12:50, 18 September 2020 (UTC)Thanks for your comment. I wonder why this sentence should be in Wikipedia. I did a literature search and found no reliable source to support this claim. We live in times when it is difficult to distinguish between true and false facts. It is therefore important that Wikipedia only includes information that is scientifically and medically established. There is no reputable scientific journal that supports this thesis. Diffuse assumptions and statements from unreliable sources should not be stated in Wikipedia. Apart from that, it has to be differentiated what this rate of 60% refers to. Does the karyotype 47XXY lead to an increased rate of SPONTANEOUS abortions, or is it the parents who decide in 60% that an abortion should be PERFORMED? That’s a huge difference. Please provide reliable sources. Kind regards

I had a assumption that it might have to do with the parents. But it’s hard to tell because the sources don’t really example. I had found sources showing that a lot of parents chose to abort the children. CycoMa (talk) 14:23, 18 September 2020 (UTC)

Please no assumptions in Wikipedia. If you have reliable sources, please quote them. I could not find a single one relating to this subject Lebenmit47xxy (talk) 15:15, 18 September 2020 (UTC)

Two separate reliable secondary sources were given for the sentence. Remember, as per WP:MEDRS, secondary (and *not* primary) sources are what should generally be used. I'm worried that this conversation qualifies as attempting to "debunk" a reliable secondary source as per WP:MEDREV. There is *no need* to show a primary source to justify any claim cited in a reliable secondary source for medical content. Again, please review WP:MEDREV. It's worth mentioning that checking the reliable sources noticeboard shows general consensus that Medscape is a reliable source. Again, to be as clear as possible: Medical information here should cite reliable *secondary* sources, not primary sources (such as research published in peer-reviewed journals); see WP:MEDRS. I believe that the section should be put back. Further objections? Global Cerebral Ischemia (talk) 19:07, 18 September 2020 (UTC)

Thank you for this fruitful discussion! Again we should be clear on what we are discussing here. Does this percentage relates to the number of 1) spontaneous miscarriages or 2) the medical termination rate. Lets discuss both: I present you some papers from reliable medical journals Ad1) Chromosomal anomalies in first-trimester miscarriages Elisabeth Ljunger 1, Sven Cnattingius, Catarina Lundin, Göran Annerén Affiliations expand • PMID: 16232180 • DOI: 10.1111/j.0001-6349.2005.00882.x Background: It is well known that a large proportion of first-trimester spontaneous abortions is caused by chromosomal disorders. The present study represents a unique material and the success rate of the karyotyping was high. Methods: Chromosomal analysis from chorionic villus sampling of 259 of 304 consecutive first-trimester miscarriages in the Uppsala County, Sweden is presented. Results and conclusions: An abnormal karyotype was found in 61% of the cases. Cases with an extra sex chromosome constituted approximately 5% of the karyotyped abortions, with a remarkable high frequency of 47,XXY (3.4%), that is approximately 40 times greater the prevalence of Klinefelter syndrome among live birth. Similar to autosomal chromosome abnormalities, present finding indicates that the majority of sex chromosome abnormalities do not survive to term. Autosomal trisomies and an extra X-chromosome in males (47,XXY) were associated with an advanced maternal age, whereas monosomy X as well as polyploidy changes seems to be inversely related to the age of the mother. The single most common aberration was trisomy 16, which was found in 14% of the chromosomally abnormal abortions.

Ad 2) The article “Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature” by Kwon Chan Jeon et al. published 2012 in Genetics in Medicine (PMID: 22237429 DOI: 10.1038/gim.0b013e31822e57a7 ) is a good review for the termination rates from 1987 to 2011. “Seven studies (36.8%)3,8,9,10,18,20,22 reported a diagnosis of Klinefelter syndrome led parents to decide to terminate the pregnancy, yielding an average termination rate of 61% (range: 44–85%). As an example, a study conducted by Sagi et al.20 examined 60 cases from patient records in the 10 years between 1989 and 1998 and identified that 85% (n = 7) with 47,XXY (Klinefelter syndrome) were terminated. Moreover, Hamamy et al.8 assessed 61 records of SCAs at the University Hospital of Geneva and found that, among SCAs, Turner syndrome led to the highest rate of pregnancy termination (100%) and Klinefelter syndrome, to the second highest rate of termination (73.9%).” As you can appreciate the case numbers are relatively low, thus the validity is limited. Another study from France analysed the pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome (article by N. Gruchy, Human Reproduction, Volume 26, Issue 9, September 2011, Pages 2570–2575, https://doi.org/10.1093/humrep/der193) “RESULTS AND CONCLUSIONS The pregnancy termination rate declined markedly over time, from 46.9% before 1997 to 11.6% thereafter, in line with the introduction of new legislation on prenatal diagnosis for medical reasons and, more specifically, the creation of multidisciplinary prenatal diagnosis centers” Lebenmit47xxy (talk) 21:15, 18 September 2020 (UTC)

The first paper is an example of what's described by WP:MEDREV; using a primary source (a research article) in order to contradict or debunk a secondary source. The second article is a systematic review (and thus qualifies as a secondary source), so IMHO it would be perfectly fine to add that data here in the article. However, that's a separate issue from the Medscape statement. It's not for us to parse through primary research, that's why WP:MEDRS exists. All we can do is use secondary sources like Medscape (or systematic reviews like the one you quote here). Again, WP:MEDREV is crystal clear: Secondary sources are to be respected and we're not to comb through pubmed or article databases with the intention of debunking them (though we're free to use other secondary sources to provide additional information). The Medscape article is a clinical practice guideline (the top of the evidence pyramid at WP:MEDASSESS) written by experts (physicians) with the oversight of a specialty editor board and chief editors (all experts as well). Perfectly conforms to WP:MEDRS. I'm having a hard time seeing any reason the Medscape statement shouldn't stay. Adding more information from other reliable secondary sources (like review articles) should be perfectly fine. Global Cerebral Ischemia (talk) 20:32, 19 September 2020 (UTC)

Dear Global Cerebral Ischemia, thank you very much for your statement and work. I learned a lot and will be more carefully with future edits. You can put back the section prenatal. Altough medscape is a reliable source (invitae ist not) i still wonder to what period of time the 40% refer to 1989-2010? oder is it actual? for me this information (which i think is important)is missing. Nevertheless as there are no other related numbers available it might be used here. Thank you again for your long and helpful answer.Lebenmit47xxy (talk) 09:58, 20 September 2020 (UTC)

"People with" section prejudice

In the "people with Klinefelter" section, 4 out of 9 listed individuals are (attempted) murderers/rapists... this seems unlikely to reflect the actual proportion of people with Klinefelter who are such. Could we maybe just remove those people given that it reflects and encourages the media bias of intersex people as being "monstrous"? 82.6.166.75 (talk) 09:05, 23 April 2021 (UTC)

As the article explains, individuals with Klinefelter syndrome are born with a male phenotype (though they, like anyone else, can identify as intersex or however else they want). The "People" section of any article, whether it's a syndrome or religion or ethnic background, etc, is intended only to provide links to biographies of individuals with the trait who have articles on wikipedia. I'm sympathetic to your main point, but as long as the 4 individuals in question have wikipedia articles, those names are as valid to list there as the others; again, each name has an article and is supported by a citation. If we removed them, anyone would be perfectly entitled to add them again. AFAIK WP:NOT may or may not apply here, I'm not sure what the consensus is among editors on issues like this. Nevertheless, I'm open and listening, and I would support removing the names if we can get editor consensus. Thoughts anyone? Global Cerebral Ischemia (talk) 12:01, 23 April 2021 (UTC)

Global Cerebral Ischemia, I've just been thinking about this. I've done a lot of work with sex chromosome aneuploidy articles lately, and I'd theoretically like to bring this to GA/FA, but it mostly sounds like a horrible headache of having to perpetually revert people who thinks it makes you gay. The existence of a 'notable people' list composed of serial killers and transgender porn stars is exactly what I think encapsulates the article's current weaknesses. Vaticidalprophet 10:10, 14 June 2021 (UTC)

I'm open to removing the list entirely, though I can foresee arguments along the lines of WP:NOTCENSORED. Nevertheless, just because a "notable people with" list can appear for any given syndrome, it doesn't mean it *has* to appear (for example, Turner syndrome has no such list). If you want to go ahead and remove it, I won't object. Global Cerebral Ischemia (talk) 13:22, 14 June 2021 (UTC)

My personal preference for *all* "People with... " sections would be to add the appropriate category to each relevant biography and then add the category link to the "See also" section. This would keep the list auto-updated and help enforce reliable sourcing. Rklawton (talk) 21:18, 19 June 2021 (UTC)

As for bias... I recall my neuroscience professor and textbook both noting that people with XXY chromosomes tend more toward violence than people with XX or XY chromosomes. I mention that simply to observe that what we see here may not be bias at all. See also: [4]Rklawton (talk) 21:18, 19 June 2021 (UTC)

A lot of people's neuroscience professors and textbooks have decades-old ideas of SCAs. There is no association between Klinefelter's and criminality controlling for socioeconomic status. Narrowly speaking about 'notable people' lists-categories-etc for KS, I think this specific condition would have serious and inescapable selection bias for such a list (regardless of its presentation) because it's a stigmatized condition, and those people who are notable and open about it are a very unrepresentative sample of people with it. (Even people diagnosed are quite unrepresentative, as only around 30-50% of cases are.) Vaticidalprophet 01:55, 20 June 2021 (UTC)

Less conscientious?

The statement "Klinefelter males are less open, less conscientious, and less social than males with normal chromosomal composition" contains an astonishingly moralistic proclamation. Less open? Less conscientious? Really? I checked the reference provided (Giagulli V.A.; et al. (2018). "Neuropsychiatric aspects of men with Kleinfelter Syndrome". Endocrine, Metabolic & Immune Disorders Drug Targets. 19 (2): 109–115. doi:10.2174/1871530318666180703160250. PMC 7360906. PMID 29972105). The cited paper by Giagulli et al. doesn't even contain the words "open" or "conscientious". Moreover, it doesn't even obliquely imply such claims. The paper does indicate an increased risk of anxiety and depression. Honestly though, if I had KS and read these Victorian-era claims about men with KS being shifty and shiftless (or in 21st Century speak, "less open" and "less conscientious"), I too would be depressed. And anxious about the integrity of WP articles. Ross Fraser (talk) 22:45, 16 January 2022 (UTC)

Openness and conscientiousness are two of the "Big Five" personality traits, a taxonomy which is very commonly used in psychological and neurological research. It has nothing whatsoever to do with morality or Victorian-era claims. The reference provided was indeed wrong: the correct reference was higher up in the same section, "Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement". That paper showed that KS individuals score lower in extraversion (probably what the author meant by "social"), openness to experience, and conscientiousness than controls. (They also scored higher on neuroticism, which I think the author didn't mention.) So the section seems to have been overall correct minus the reference, but should probably be reworded to clarify that those terms are from the Big Five, and should probably also include discussion of the neuroticism finding, which the authors found more relevant in their conclusions.

If someone wants to fix that issue, this was the revision which removed it: https://en.wikipedia.org/w/index.php?title=Klinefelter_syndrome&diff=1066124169&oldid=1063907076

And this is the correct citation: Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (2018) Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement. PLoS ONE 13(11): e0206932. https://doi.org/10.1371/journal.pone.0206932 Hushpiper (talk) 01:41, 18 August 2022 (UTC)

Origin of X chromosome

The lead section currently contains this sentence:

The extra X chromosome comes from the father and mother nearly equally.

I interpret this as "an individual with Klinefelter would have received roughly 50% of an X chromosome from the father, 50% from the mother". I'm pretty sure that this is incorrect (and indeed impossible), and that what is meant is "comes from either the father or the mother in nearly equal proportions of cases". Unfortunately the cited source (Kanakis & Nieschlag 2018, doi:10.1016/j.metabol.2017.09.017) is paywalled and the relevant claim isn't in the abstract. Can anyone verify what it says, so that I (or someone else) can improve the confusing sentence? -- Perey (talk) 01:43, 13 October 2022 (UTC)

Frequency

The introduction to the articles states that Klinefelter sydrome occurs in one to two per 1,000 live births, but the Epidemiology section claims a prevalence of 0.04%. Somehow these numbers don't match up - can anyone look into it? 195.113.31.32 (talk) 16:21, 1 August 2024 (UTC)