Talk:XXXYY syndrome#Literature on newborn screening methods that can detect XXXYY syndrome

{{Template:Did you know nominations/XXXYY syndrome}}

I noticed this article terms it a "chromosome disorder" while the Wikipedia article on the subject is listed under "chromosome abnormality". If you search Google scholar the latter is more common by 5-10 times. The google dictionary tells me that disorder is defined as "an illness or condition that disrupts normal physical or mental functions", but I'm not sure if this is the case for all chromosome abnormalities. (t · c) buidhe 03:18, 28 September 2023 (UTC)

:I don't love either term, but this one is as-far-as-we-can-tell fairly impairing, so I think "disorder" is accurate in at least this case. There are others I'd probably intro-sentence as "anomaly" (rather than "abnormality"), e.g. if I ever work on the lead of XYY syndrome. Double-checking the others I've worked on all use "disorder", but that of course doesn't necessarily mean it's the Objective Best Term. I'm really hesitant to use "abnormality" across the whole suite, which feels more stigmatizing than "disorder". If there should be a standard use across the suite that isn't the current use of "disorder", that probably needs wider discussion. It's possible there's a minor engvar impact here -- I see "chromosome disorder" more often in BrEng, e.g. patient group use seems to differ on that. Vaticidalprophet 03:28, 28 September 2023 (UTC)

::Of the several bolded terms in the article (from Google Scholar results since the beginning of 2022):

::*"chromosome abnormality" = [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosome+abnormality%22&btnG= 1,250] or "chromosomal abnormality" = [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosomal+abnormality%22&btnG= 4,300]

::*Chromosome aberration = [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosome+aberration%22&btnG= 2000] or "chromosomal" [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosomal+aberration%22&btnG= 3,400]

::*"chromosome mutation" = [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosome+mutation%22&btnG= 400] or "chromosomal" [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosomal+mutation%22&btnG= 687]

::*"chromosome anomaly" = [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosome+anomaly%22&btnG= 200] or "chromosomal" [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosomal+anomaly%22&btnG= 1,000]

::*"chromosome disorder" = [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosome+disorder%22&btnG= 189] or "chromosomal" [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C48&as_ylo=2022&q=+%22chromosomal+disorder%22&btnG= 965]

::Ideally, I think we would use the same wording across related articles but I don't know how important that is or what the best term would be. (t · c) buidhe 05:19, 28 September 2023 (UTC)

:::If it helps ICD appears to have switched from "abnormality" in ICD-10 to "anomaly" in ICD-11 - cf. {{ICD10|Q97}}, {{ICD10|Q98}} and {{ICD11|LD50}}. Little pob (talk) 12:33, 28 September 2023 (UTC)

{{Talk:XXXYY syndrome/GA1}}

On what basis are all individuals with XXXYY chromosomes considered "male"? After all, according to people on Twitter who call me mentally ill for asking the question, "male" specificially means XY chromosomes, and anyone who says otherwise is probably a groomer. 2600:8801:1CA5:700:2DDB:B4F9:58BD:1BDE (talk) 19:56, 9 October 2023 (UTC)

User:Vaticidalprophet metioned at https://en.wikipedia.org/w/index.php?title=XXXYY_syndrome&diff=1184910530&oldid=1184910387 (quote) "this isn't really accurate -- even in the position where some SCAs are intersex that's not applied to all of them, and this isn't one for which the topic has been discussed, so it coatracks to clearly declare it one".

Could you please specify where it was discussed? I reviewed the talk page and didn't find a thorough discussion. I reviewed again the definitions of DSD and Intersex given in the medical literature. These definitions seem to match perfectly, as there are both chromosomal and gonadal deviations, such as (quote): "low testosterone, alongside elevated lutenizing hormone and follicle stimulating hormone", "genital abnormalities are a hallmark of the syndrome", "micropenis and cryptorchidism (undescended testes)", "sparse or absent facial hair", "high-pitched voices".

Please help. Maxim Masiutin (talk) 11:23, 13 November 2023 (UTC)

:The terms are fairly slippery, but intersex/DSD as applied to sex chromosome aneuploidies is more contentious than for many other subjects -- the 2006 consensus statement considers some SCAs intersex/DSD but not others, while most other medical or sociological definitions I've read by scholars familiar with SCAs specifically consider them either clearly not examples or borderline cases. Because this specific example is so rare, there's no real analysis of whether it is in and of itself one of the "may or may not be intersex/DSD" cases. There are articles where the SCA intersex/DSD debate is in scope (e.g. if I ever rewrite Klinefelter syndrome it'll need to discuss it a lot, because that's the one for which the definition disagreement between the '06 consensus statement and most later SCA-specific statements is a big deal and extensively covered), but because this one isn't something where it's specifically discussed for the individual disorder, it has COATRACK problems to get into the weeds of that here. Vaticidalprophet 11:31, 13 November 2023 (UTC)

::OK, thank you for your thorough explanation, let us avoid this slippery slope. Maxim Masiutin (talk) 12:25, 13 November 2023 (UTC)

Here are some ideas on how the article can be improved:

1. Classification: please consider making it a distinct standalone section or a subsection with classification to navigate the article more easily, find the text there, and better understand the context while skimming it.
2. Mechamism: please consider explaining the mechanism behind those symptoms observed and the mechanism on why this genetic variation happen by briefly describing the underlying mechanisms leading to such genetic outcome.
3. Screening: please consider finding information and explaining in the article all relevant information on the prevention and screening of this condition. It was only mentioned in the article that patients were screened in prisons and institutions, forming an image of such conditions as severely disabling. Still, it was not written anything about newborn screening. Are there newborn screening programs to detect this condition on birth? Is this condition part of routing newborn screen kits or not? Can it be detected pre-birth, such as a finding as a result of prenatal screening for Klinefelter syndrome? If screening newborns or pre-birth is routine, then in which countries? If not, then why? I understand that it is a part of the karyotype test that may be used to screen other more frequent conditions involving sex chromosome abnormalities. Were there arguments for screening newborns for sex chromosome abnormalities or not? Are there advocacy groups that lobby screening other sex chromosome abnormalities that would also cover this symptom? What other genetic conditions or abnormalities are typically included in newborn screening programs? Are there any known cases of XXXYY syndrome being identified through routine newborn screening? What are the potential long-term health impacts and outcomes for individuals with XXXYY syndrome if not detected through newborn screening? Is there a recommended timeframe within which newborn screening should be conducted to accurately detect XXXYY syndrome? Are there any specific challenges or limitations associated with implementing widespread newborn screening for sex chromosome abnormalities like XXXYY syndrome? How does the cost of incorporating XXXYY syndrome screening into existing newborn screenings compare to its potential benefits? Have any studies been conducted on the effectiveness and accuracy of current methods used in newborn screenings to detect sex chromosome abnormalities, including XXYYY syndrome? Have there been any animal studies conducted, such as in mice, to investigate the potential factors that may contribute to an increased or decreased occurrence of milder forms of sex chromosome abnormalities like XXY or XYY? What specific conditions or experimental manipulations in animal models have shown an increase or decrease in the frequency of sex chromosome abnormalities, potentially leading to a noticeable occurrence of XXXYY syndrome? Can findings from animal studies provide insights into the underlying mechanisms that may contribute to the development and manifestation of XXXYY syndrome? Given the rarity of XXXYY syndrome, are there any specific guidelines or recommendations for healthcare providers on when and how to consider newborn screening for this condition? Considering the low prevalence of XXXYY syndrome, what factors should be taken into account when deciding whether to include it in routine newborn screenings? Are there any ongoing research efforts to improve the accuracy and reliability of newborn screening methods for detecting rare conditions like XXXYY syndrome?
4. Treatment or Management: I kindly propose to include information on treatment or management options in the article. It would significantly enhance the quality of the article if even a few sentences could be added, such as a few sentences acknowledging that the treatment options for chronic conditions are not currently known if that is the case. It is important for a well-rounded article on Wikipedia to provide insights into treatment or management, as it adds to the completeness of the information about a disease or medical condition. Thank you so much for considering this suggestion!

Maxim Masiutin (talk) 22:45, 20 November 2023 (UTC)

Please consider reviewing the literature on new and potential newborn screening methods that can detect XXXYY syndrome, so that information to be included into the article. In this specific case, the newborn and prenatal screening topic is widely covered in reliable literature (secondary sources such as reviews, meta-analysis or books, for example, these are the titles of the publications indexed on MEDLINE about the newborn and prenatal screening for XXXYY syndrome and other conditions of sex chromosome aneuploidy:

1. Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study ({{PMID|23060046}})
2. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women ({{PMID|29125628}})
3. A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention ({{PMID|31267526}})
4. Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies ({{PMID|21316319}}
5. Chromosomal microarray versus karyotyping for prenatal diagnosis ({{PMID|23215555}})
6. Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis ({{PMID|33201576}})
7. Advances in genetic prenatal diagnosis and screening ({{PMID|25211161}}) # Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review ({{PMID|33805390}})
8. Genomic newborn screening: Are we entering a new era of screening? ({{PMID|37403863}})
9. Genomic newborn screening-research approaches, challenges, and opportunities ({{ PMID|37831095}}
10. and so on....

Not all articles may provide relevant information for this article. For instance, articles about prenatal diagnostics may not directly apply to newborn screening because they have different objectives. Newborn diagnostics are usually done when there are known concerns in the family history, while prenatal diagnostics aim to identify conditions during pregnancy. As XXXYY syndrome is not inherited, prenatal diagnostic testing specifically for this syndrome is not necessary. Newborn screening methods such as karyotyping or genome sequencing can still be valuable as they can detect sex chromosome abnormalities, including XXXYY syndrome. Articles about newborn screening can offer insights and information that enhance the content of this article. Incorporating literature and resources related to research directions in newborn screening would be beneficial. These sources can provide information on emerging advancements and future possibilities in diagnosing and managing XXXYY syndrome. Maxim Masiutin (talk) 02:41, 21 November 2023 (UTC)

Please also consider writing about newborn screening based on the following articles which expressly mention XXXYY in context of newborn screening:

• {{cite journal|doi=10.3390/children9111719|title=Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review}}
• {{cite journal|doi=10.1159/000101523|title=Can Klinefelter Patients Be Female?: Commentary on Lee Y.S. et al: Genital Anomalies in Klinefelter’s Syndrome (Horm Res 2007;68:150–155)}}
• {{cite journal|doi=10.1542/peds.96.4.672|title=Sex Chromosome Tetrasomy and Pentasomy}}

You can also look for similar articles that mention expressly XXXYY in context of newborn screening. Maxim Masiutin (talk) 17:54, 21 November 2023 (UTC)

We strive to provide comprehensive information about the XXXYY syndrome on the Wikipedia page, but we also want to avoid repeating the same content that is relevant to other articles. One way to do this is to use Transclusion, which automatically includes parts of text from one page to another. For example, we could use Transclusion to insert a section about the newborn screening issues common for all variants of sex chromosome aneuploidies (SCA). Alternatively, we could briefly summarize the screening issues and then link to a separate article covering them in more detail. This would help the readers to get a complete overview of the basic concepts, such as screening and management, without having to search for them elsewhere. However, we should be careful not to use Transclusion or linking in a way that violates the GA or FA criteria, such as by creating unstable or inconsistent pages. Another issue we face is that the pages for different SCA variations (i.e., XXY, XYY, XXXX, XXXY, XXXYY, and so on) have different levels of coverage and quality. Some pages have more information than others on topics that are common for all SCA variations, such as meiosis. This creates a problem of imbalance and duplication, as well as a potential for confusion and misunderstanding. We should strive to make the pages for all SCA variations equally informative and accurate by following the same standards and guidelines. One possible solution is to create a separate page that explains the general aspects of SCA, such as meiosis, and then link to it from the pages for each specific variation. This would ensure that the readers can access the same information regardless of which variation they are interested in and that the information is consistent and reliable. This would also make the pages for each variation more focused and concise by avoiding unnecessary repetition and redundancy. Maxim Masiutin (talk) 23:16, 21 November 2023 (UTC)

@Vaticidalprophet, if you wish to find very good reviewers, please consider publishing this article (or any other article) in the WikiJournal of Medicine. It is an academic journal run by the same foundation that runs Wikipedia. The editorial board of the journal will find good reviewers who have works on this or related topics published in academic journals. After you pass the review process, improving the article based on revers' feedback and get the article published, you will be able to copy the contents back to Wikipedia. My experience on WikiJournal of Medicine is very positive. I once was working on an article on alternative androgen biosynthesis and the editorial board attracted the two of the best if not the best specialist in the world on androgen biosyntheisis who had lots of research works and reviews published on androgen biosyntheisis in various academic journals. Therefore, if you wish to find an expert on genetics or conditions like that, WikiJournal of Medicine is the place to find experts. You can see typical articles published there at https://en.wikiversity.org/wiki/WikiJournal_of_Medicine -- for each of the articles, there is a link "Reviewer comments" that shows communication between the reviewers and the authors.

The journal follows a transparent and open peer review process, allowing for constructive criticism and suggestions from multiple reviewers. The editorial board finds at least two reviewers who are experts in the field, but other reviewers may also join. The editorial board is the moderator should any issue arise like disagreement among different reviewers on a particular topic. This can greatly enhance the quality and accuracy of the article submitted there, as well as provide valuable insights and perspectives. The journal is indexed in many catalogs such as Google Scholar or Semantic scholars, but is not yet accepted by MEDLINE, still, I hope MEDLINE will accept it in the future. Maxim Masiutin (talk) 09:44, 22 November 2023 (UTC)