Talk:XY gonadal dysgenesis

if XY female mate with XY male?

A very intresting question came to my mind. If somehow by giving estrogen and other female hormones will it produce normal baby if it mates with an normal male?

There are no ovaries, hence no eggs, no pregnancy, no baby. alteripse 01:43, 30 March 2006 (UTC)

The only ways for a Swyer to have a baby are to either use someone else's embryo, or have a clone of themselves implanted through IV. (yes, I have pondered this kind of thing. I am a Swyer ;)) --60.229.153.253 10:47, 24 February 2007 (UTC) (Addition to the above: I don't know how advanced biology is, but some day it could be possible to clone a virile male version of myself by adding the SRY gene! That would be sweet)--138.130.124.108 05:47, 12 March 2007 (UTC)

I don't think that by taking another woman's egg, extracting her genetic material, and inserting the genetic material of a Swyer patient, the baby would necessarily be a clone. Before you insert the Swyer woman's DNA, it would have to be split in half right...because that is how natural embryos are formed. Half the female's DNA, and half the male's DNA. to make the full set. So perhaps, the DNA of the Swyer patient can be extracted from a somatic/body cell, split in half, combined with the genetic material of one sperm, and inserted into a previously emptied donor egg. Does this make sense to anyone, or am I not "getting" it? —Preceding unsigned comment added by 70.75.45.45 (talk) 02:05, 27 August 2009 (UTC)

I think we need an article on gonadal dysgenesis

Swyer syndrome is one type of gonadal dysgenesis. Rather than confusing mentions of a random assortment of some of the other forms of intersex or gonadal dysgenesis, we need an article on gonadal dysgenesis that explains the term and lists systematically the major forms. In the meantime, I parked some of Ekem's recent additions here because I think they confuse rather than inform the reader. The section either needs to be more complete or systematic (which would be longer than the rest of the article) or it needs to be part of an article on all the forms of gonadal dysgenesis. alteripse 15:50, 23 June 2006 (UTC)

Removed material:

Swyer syndrome results from a failure of one of the earliest stages of differentiation of a genetic male: translation of the SRY gene to initiate testicular development. In a minority of cases of apparent Swyer syndrome, some other very early defect of testicular development (testicular dysgenesis) occurs. Since estrogens are made from androgens, any severe defect of androgen production (e.g., congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency) will also produce estrogen deficiency and result in a failure of pubertal development in a girl with an XY karyotype. On the other hand, a defect of androgen action (e.g., androgen insensitivity syndrome) is readily distinguished because the breasts begin to develop normally without much delay, though pubic hair may be minimal.

There is a condition in 46,XX females where the ovaries fail to develop or become atretic prior to puberty: XX gonadal dysgenesis.

Anorchia refers to a condition in males whose testicular development arrests prior to birth but after the reproductive system has been masculinized.

Diagnosed with Swyer, but having secondary sex characteristics

I was reciently diagnosed with Swyers, but I noticed that the artice says there shoudn't be any development of secondary sex characteristics(Aka breasts, and pubic hair) however, I have both.. It it still a form of Swyer? —Preceding unsigned comment added by Kairnaola (talk • contribs) 15:01, 5 November 2008 (UTC)

I think so, I mean I have pubic hair too and I have been diagnosed with it. Pubic hair is caused by testosterone which we can get from our andrenal glands. Breasts- well, I have "breast buds". I am not sure how they came about though, I'm not a sciencey scienceman. --58.178.248.35 (talk) 01:56, 20 January 2009 (UTC)

Contradiction regarding breast development

The intro says that breasts develop on their own if the streaks are not removed. The "Treatment" section, on the other hand, suggests that breasts fail to develop without estrogen replacement. Sounds like a contradiction to me... --NetRolller 3D 02:56, 20 August 2010 (UTC)

Article has been updated since your concern, and no longer contradicts itself. For the record though, as is now expressed by the article, by default there is no breast development in Swyer Syndrome - lack of ovaries means your adrenal glands are the only source of sex hormones... which is not sufficient to induce breast development (but is enough to get pubic hair). corvus.ag (talk) 19:44, 1 May 2011 (UTC)

Doesn't Jamie Lee Curtis have this condition?--Kleinr (talk) 23:14, 21 September 2011 (UTC)

Rare case of breast development and menstruation in Swyer Syndrome patients.

I’m not entirely sure where you can put this but I think this is some good information to add here.

— Preceding unsigned comment added by CycoMa (talk • contribs)

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References

There have been cases of women with Swyer syndrome having ovaries or ovarian tissue.

I think it should be added.

https://link.springer.com/article/10.1007/BF00569712

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680992/

https://www.sciencedirect.com/science/article/abs/pii/0002937871902225 — Preceding unsigned comment added by CycoMa (talk • contribs) 12:31, 3 August 2020 (UTC)

Per WP:MEDRS, stick to WP:MEDRS-compliant sources for this material. This means, for example, avoiding primary sources (WP:PRIMARY). Also see what WP:SCHOLARSHIP states. Flyer22 Frozen (talk) 21:52, 3 August 2020 (UTC)

This isn't swyer syndrome. this is CBX2 Negative females. 2d32d23ff322 (talk) 01:28, 25 April 2024 (UTC)

At least one of those papers is titled 'Ovarian development in 46,XY gonadal dysgenesis'. 46,XY gonadal dysgensis is, by definition, the same thing as Swyer syndrome. Swyer syndrome can be caused by a multitude of different mutations in a multitude of different genes, and while absence or mutations in the SRY gene is one cause of Swyer syndrome, plenty of other genes can play a role. There is evidence that one of these genes is CBX2, as shown by the above reports. Please at least read the sources provided before attempting to exclude information from a wikipedia entry.

In addition, in terms of presentation and a clinical label, Swyer syndrome is somewhat of an umbrella term for a spectrum of presentations where streak gonads may or may not be present, etc. Because cases like the one referenced above and thisone are so rare, there doesn't seem to be any consensus or even any discussion on where or if the line for the diagnosis of Swyer syndrome ends and where or if something else begins or if it's just atypical presentations of Swyer syndrome. You definitely can't make the definitive ruling that it's not Swyer syndrome without that kind of consensus, especially when one of the papers linked calls it 46,XY gonadal dysgenesis, which is the exact same thing as Swyer syndrome. And until we reach that medical consensus, I think it does this article a disservice to not at the very least mention that it is entirely possible for an individual with an XY karyotype to have ovaries. It's a pretty important and relevant detail, and so where else or in which other article would it be put? You can argue that it's not Swyer syndrome or whatever, but until there's medical literature to support that having an XY karyotype and ovaries is a separate condition (and so requiring its own wikipedia entry), the article for XY gonadal dysgenesis is at the very least the best place to put it based on the current medical literature. Despondentmeows (talk) 21:14, 25 April 2024 (UTC)

Swyer Syndrome is not defined as "a spectrum of presentations where streak gonads may or may not be present", Swyer syndrome is referred to clinically as "XY complete gonadal dysgenesis, a condition where the gonads are completely degenerated. Cases like Turner Syndrome are a form of gonadal dysgenesis but are not clinically referred to as "complete gonadal dysgenesis" even though they have partially degenerated tissue, nor is mixed gonadal dysgenesis, because you have to have completely degenerated gonadal tissue in order to be considered as "complete gonadal dysgenesis". Sorry for not fully reading each case the first time, so I'll go over it.

In the first case you provided, It's a case from 60 years ago in 1982 of what appeared to be a person with an XY karyotype. Firstly, the case itself says that the patient showed signs of the Turner syndrome with partially degenerated tissue, meaning the patients did not suffer from complete gonadal dysgenesis (swyer syndrome) but actually suffered something closer to turner syndrome, As turner syndrome is a form of gonadal dysgenesis, as the right ovary was not completely degenerated, hence why it's called "Ovarian development in 46,XY gonadal dysgenesis" and not "Complete Gonadal Dysgenesis", because there is partially non-degenerated tissue. The case also never clarified if there was any mosaicism or Y inactivation because its a very old case when medical science didn't fully understand the condition.

In the second case (the case i was referring to), the case is only called "Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene". in this case, there is literally no evidence of gonadal dysgenesis at all. The case itself never even mentions the word "gonadal dysgenesis". The girl in the study is a completely normal female with normal ovaries and ovarian development, including normal ovarian tissues with primordial follicles. This person literately had no gonadal dysgenesis at all. The studiers conclude that it is simply a normal female because of a CBX2 mutation in an XY fetus.

In the third case, It does not refer the individual as having "XY pure gonadal dysgenesis", it only says "An XY human female with ovaries". The person did not have fully degenerated ovaries and again, the person showed signs of Turner's syndrome. This case is also from 50 years ago and it never tests for mosaicism as well.

In the final case you posted, that case is a mosaic case. The person had completely normal ovaries (no degeneration) and a predominantly 46:XY cells, but also contained 46:XX cells as well. This woman therefore doesn't have exclusively XY cells, and has no gonadal dysgenesis according to the paper itself. Mosaicisms are their own classifications. Vangaurden (talk) 22:54, 25 April 2024 (UTC)

1. Nitpicking my word choice unnecessarily is not a helpful discussion to be having, especially given that this article itself is named 'XY gonadal dysgenesis' and not 'XY complete gonadal dysgenesis'. The term I used was appropriate, especially given the context. The source you linked does not provide evidence for the claims you go on to make. Dysgenesis as a term is not related to the word degereration, which is what you appear to be operating under the impression of, but rather, to quote from the source you linked, 'abnormal development'. Complete gonadal dysgenesis therefore means something along the lines of 'complete abnormal development of the gonads', not 'complete degenerated gonads'. Gonads developing into ovaries where, based off of an individual's chromosomes, you'd expect testes, is pretty much textbook 'abnormal development'. Furthermore, to quote again from Medline plus, 'Without functional sex-determining region Y protein, a fetus will not develop testes but will develop female-typical internal and external reproductive structures, despite having an X and Y chromosome.' The CBX2 gene most likely plays a role in the regulation of SRY, and without that pathway functional, XY gonadal dysgenesis or Swyer syndrome develops. This information is pulled directly from the source you cited, by the way. Ovaries are not specified. While perhaps a distinction exists, there is none made in the current medical literature. If you would like to publish some good quality research investigating if the the clinical label of a 46,XY individual with ovaries should in fact be distinct from that of a Swyer syndrome diagnosis rather than simply an atypical case, be my guest. Until then, we edit this article based off of the current medical understanding of 46,XY gonadal dysgenesis, and currently, there is no sources distinguishing the two types as completely different clinical categories.
2. I am fully aware what mosaicism is. The case I referenced was not a case of XX/XY mosaicism, but rather XY/X mosaicism, also known as mosaic Turner syndrome. This is not a diagnosis incompatible with that of Swyer syndrome, and, given that the patient's ovaries had a predominantly 46,XY karyotype (92.4%), and that the paper makes sure to state that, 'Although the demonstration of 5.9% 45,X cells in the ovary is difficult to interpret, most cytogeneticists agree that 5% does not indicate mosaicism'. Based off of the case report, mosaic Turner's does not seem to be the primary factor, at least in the patient's ovaries.
3. It is entirely possible and has occured before for these conditions or similar ones to occur simultaneously in one individual. For example, both Klinefelter's and mosaic Turner's syndromes have occured in individuals with complete androgen insensitivity syndrome. Mosaicism is not a disqualifying factor when it comes to considering that other genetic factors are at play.

Finally, to reiterate, you are operating off of an incorrect definition of dysgenesis. Again, read your source fully before you post it. Despondentmeows (talk) 01:57, 26 April 2024 (UTC)

I've also found another source to back up what I'm saying. This profile on the gene CBX2 says, and I quote, 'Mutations in this gene are also associated with gonadal dysgenesis in humans'. As I established in my previous reply, gonadal dysgenesis does not mean degeneration, it means abnormal development. If we're talking about the CBX2 gene in particular, it is, by definition, as it occurs in XY individuals and results in 'abnormal development' of the gonads, is is XY gonadal dysgenesis. You state, 'The studiers conclude that it is simply a normal female because of a CBX2 mutation in an XY fetus'. That's not how it works. By definition, a phenotypically female fetus with XY chromosomes is not the typical developmental pathway for that set of chromosomes. It is defined as XY gonadal dysgenesis, therefore by definition a form of Swyer syndrome. Despondentmeows (talk) 16:11, 26 April 2024 (UTC)

These sources might come in handy

This article seems very short and needs more information. So I found a bunch of sources that might come in handy, not sure where to put them.

You don’t have to add all of these and there are probably some flaws within these sources I’m merely mentioning them for info.

Found 2 sources mentioning that 10-15% of cases are caused by mutation in SRY gene.

https://www.google.com/books/edition/Clinical_Gynecologic_Endocrinology_and_I/Ll73ZsBKLkwC?hl=en&gbpv=1&dq=Swyer+syndrome&pg=PA365&printsec=frontcover

https://rarediseases.org/rare-diseases/swyer-syndrome/

The rate of tumor development wasn’t mentioned.

https://fertilitypedia.org/edu/diagnoses/swyer-syndrome

https://wjso.biomedcentral.com/articles/10.1186/1477-7819-5-71

The article doesn’t mention that Hormone replacement therapy also helps reduce the risk of reduced bone density and doesn’t mention anything about nerve problems or it having some connections to campomelic dysplasia.

https://www.google.com/books/edition/Genetics_of_Bone_Biology_and_Skeletal_Di/tmx_CwAAQBAJ?hl=en&gbpv=1&dq=swyer+syndrome+osteoporosis&pg=PA6&printsec=frontcover

https://www.endocrine-abstracts.org/ea/0037/ea0037ep1336

https://medlineplus.gov/genetics/condition/swyer-syndrome/

I think Jeanne Nollman should be mentioned in this article as well since she helped out in intersex activism and was even mentioned on a episode of Mystery Diagnosis.

https://isna.org/node/1082/

http://www.tv.com/shows/mystery-diagnosis/the-woman-with-unusual-dna-1381272/

I found these sources about Gerald Swyer.

https://www.google.com/books/edition/Dr_Gerald_Swyer/3uwYNQEACAAJ?hl=en

https://www.google.com/books/edition/The_Fertility_Doctor/WiW1qeQxYM8C?hl=en&gbpv=1&dq=Gerald+Swyer.&pg=PA212&printsec=frontcover

https://history.rcplondon.ac.uk/inspiring-physicians/gerald-isaac-macdonald-swyer

Also the article doesn’t mention anything about menstruation, even tho there have been documented cases like I shown earlier in the talk page.

I also found some more sources that may or may not come in handy.

https://obgyn.onlinelibrary.wiley.com/doi/full/10.1111/j.1471-0528.2008.01703.x

https://www.ecronicon.com/ecgy/pdf/ECGY-08-00329.pdf

https://reference.medscape.com/viewarticle/923606_5

Do as you please with these sources. — Preceding unsigned comment added by CycoMa (talk • contribs) 06:00, 12 September 2020 (UTC)

Primary source

I just realized something [this source] is a primary source. Sure primary sources are okay at times but a source like that isn’t ideal for article like this.CycoMa (talk) 17:18, 5 July 2021 (UTC)

Factual error regarding science paper reference/ citation.

There is apparent misreading of a science paper that has been included in this article. It resulted in a false statement that reads:

"There has been a case of unassisted pregnancy in one woman with XY gonadal dysgenesis".

The science paper literally contradicts that statement as well.

If you reread the article, the woman who is the topic of said article does not have XY gonadal dysgenesis. If you do a search of the article (usually ctrl F), you will realize that XY gonadal dysgenesis is indeed mentioned. It is not however implied that the subject of the article has it! It also makes reference to her daughter having XY gonadal dysgenesis.

It is citation 4 if you look at the end of the article. Please fact check me (this is the reason I did not just delete the content). I think it was not a vandalization! I think it is a simple misreading. 92.237.107.235 (talk) 21:43, 20 January 2024 (UTC)