Talk:Turner syndrome/Archive 1

Archive 1

The Top Right Image

If I look very close I can sort of see what it's trying to get at, but in the second half of the picture, the image is so washed out as to be mostly useless. Seems below quality standards to me, but I couldn't find any better one so I'm leaving it there for now. Statalyzer (talk) 19:43, 13 July 2016 (UTC)

Cleanup

Another general clean-up today, trying to claify some medical terminology. I think the cardiovascular section could use an edit by a cardiologist.Pustelnik (talk) 20:31, 17 December 2007 (UTC)

This

This article helped me with a large assignment for school. Thank you very much to the authors of it.

contradictory

Turner syndrome does not typically cause mental retardation or impair cognition. However, learning difficulties are common among women with Turner syndrome, particularly a specific difficulty in perceiving spatial relationships, ..... surely that is a contradiction. If it doesn't typically cause mental retardation then why are learning difficulties difficult? —Preceding unsigned comment added by 159.92.101.188 (talk) 18:05, 5 November 2007 (UTC)

It may be way late to respond to this but in case anyone else has the same issue in understanding this. There are a variety of conditions that cause both learning disabilities, and issues with depth perception. Aspergers for example? But those people are not retarded. Mental retardation and learning disabilities, and problems with spatial recognition are all way different things. If you really need more evidence look it up. 69.207.32.133 (talk) 03:33, 8 October 2008 (UTC)

Cause?

Ignoring the frightening comment from the person above who is apparently using Wikipedia as a source for a school assignment (yikes!), I'd like to address the huge gap in the CAUSE area. The only information in that section regards "cardiovascular malformations." A section called "Cause" should address the cause of the disorder, not some aspect of the disorder. Could someone please find some information on cause and add it in? —Preceding unsigned comment added by 71.202.172.104 (talk) 22:27, 14 October 2007 (UTC)

It said the cause in the beginning of the article: the absence or partial absence of an X chromosome in women. To my knowledge, that gets caused by the unfortunate event of two people carrying this gene breeding, making it more likely for the person to not just inherit the disease, but to be affected by it, as opposed to just being another carrier.

Then again, I only have a D in Biology right now. What do I know?75.151.84.17 (talk) 17:59, 4 December 2008 (UTC)

The cause of Turner's syndrome is an error during the early development of the fertilized egg. There is no "gene" for Turner's syndrome contrary to the note from the person above. SL2007 (talk) 20:58, 28 May 2010 (UTC)

Congenital Heart Disease

I did a quick cleanup. If you use the term "relative risk" you need to state both the group in question (Turner syndrome) and the group that you are comparing it to, otherwise the term is meaningless. This can be phrased as " a relative risk of 320, compared to the general population of newborns". This is not the statistic you need to know as a physician. The question you need to answer is "what percentage of (girls, infants) with a coarctation of the aorta have Turner syndrome?". or maybe "what percentage of girls with Turner's syndrome have "X"?" The term "relatively common" is relatively meaningless. Hypoplastic left heart is a very uncommon heart lesion in any group, but indeed, has been described in at least one individual with Turner syndrome.Pustelnik 01:16, 23 August 2007 (UTC)

Turner syndrome is not a form of intersexuality

To user:Snowspinner, and others who think that Turner syndrome should be classified as "intersexual" let me persuade you that this is both (a) inaccurate and (b) potentially hurtful. There is nothing "in between" or partially masculine or less than completely feminine in girls with Turner syndrome. Absence of a second sex chromosome prevents development of ovaries and often affects size and shape of some other parts of the body (short stature, sometimes shape of torso, neck, digits, etc). In most girls the physical features apart from the shortness are so minimally different that the syndrome may not be recognized until shortness or failure to go into puberty in adolescence is being evaluated. The ovaries usually don't develop right and don't work, but think (very) early menopause, not intersex. The condition can be classified as a disorder of sexual development, as a chromosomal abnormality, or a short stature syndrome, but not as an intersex condition unless you want to include so many other kinds of hypogonadism that the term intersex would lose its meaning. (b) The hurtful part of this is tougher, but look at the note above from the child who used this to do her (or his) homework assignment. Look at the pictures of the girls in the Turner syndrome website linked at the foot of the article. They don't need to look at an article like this and discover that someone else thinks they are "intersexual"? Regardless of whether you think they should or shouldn't find that term disturbing, many will. Kids and adults are sensitive to words and categories and most people in their late teens and twenties are as acutely sensitive to politically correct and incorrect terminology as they are to fashionable and unfashionable terminology. Have I persuaded you? Alteripse 16:55, 2 Jun 2004 (UTC)

If turner syndrome doesn't count as intersex, what does? — Preceding unsigned comment added by 124.186.180.22 (talk) 11:56, 24 February 2012 (UTC)

Comment about type 2 diabetes being "most easily treated" with diet and exercise is arguably erroneous. It is far too complex a topic for such a sentence to have any meaning without elaboration, and treatment details of either type of diabetes are best covered in the specific articles. Name "type 2" is preferred over "type II", which is obsolete. I removed specific statistic because I think type 2 incidence is changing too fast to be certain of the accuracy of this statement (type 2 epidemiology is complicated, affected by age, changing criteria for diagnosis as well as by ascertainment changes over decades) --unless editor has a published recent study to refer to. Alteripse 17:34, 12 Sep 2004 (UTC)

---

After whom is this syndrome named ? Jay 07:07, 10 Nov 2004 (UTC)

• Henry Turner, an Oklahoma endocrinologist, who described it in the 1940s. In Europe, it is often called Ullrich-Turner syndrome or even Bonnevie-Ulrich-Turner syndrome to acknowledge that earlier cases had also been described by European doctors. Alteripse 13:19, 10 Nov 2004 (UTC)
  • Thanks! I've added it to the article. Jay 13:56, 26 Nov 2004 (UTC)

Please have a look at "Morgagni, Ulrich and Turner: the discovery of gonadal dysgenesis", in Endocrinologist (1995, issue 5:327-328), by Tesch L.G and Rosenfeld R.G. It's a very very good article about the "history" of TS. I found it very usefull for the work i did on TS. I learnt a lot from this article. --81.56.33.157 15:28, 5 February 2006 (UTC)

---

Hi Everyone My name is Brandy Greening, Im a female living with Turner Syndrome. I am now 20 years old and was diagnosed at Birth. Now in reguards to this being a hurtful article. I saw nothing hurtful towards Turner Syndrome patients in this article. If there was in some potential way it was not meant to be interpreted that way. But anyways I am 4'5" tall and have a few of the characteristics of Turner Syndrome low hair line small digits on fingers and short stature. If anyone has questions feel free to email me at trinityroseneo {at} yahoo.com -- Brandy Greening

Too long intro.

I find the intro of this article to be FAR too long. In my opinion most of what's in the intro should be in the body of the article.

Good article

I'm currently working on a school paper (and procrastinating a bit as well), and I'm finding this page the most useful of my several sources, even out of three books. --Jeff 68.14.75.14 21:58, 18 December 2005 (UTC)

Other Sexual Chromosome disorders

There's not that many other sexual chromosone disorders, like Klinefelters; I don't find it unreasonable to link to them.--Prosfilaes 18:41, 27 December 2005 (UTC)

You're wrong on two counts. First, there are MANY such disorders. Second, the word is "chromosome," not "chromosone." Chromos means color, and soma means body. Chromosome combines these roots into a word that means "colored body," and harkens back to the dying technique they originally used to view them. —Preceding unsigned comment added by 71.202.172.104 (talk) 22:23, 14 October 2007 (UTC)

Inheritable?

User:209.232.147.200 added a note that "If a person with Turner syndrome has a child, there is a potential risk that the mother may pass on the disorder to her offspring.", which User:Alteripse deleted saying that "rv, TS is not inheritable". Is there a cite either way? I was under the impression that the children of someone with TS would have a chance of having TS, as ovum come in pairs with a disjoint set of chromosones, and one of those ovum would have an X and the other no sexual chromosone. It really should be mentioned, one way or the other.--Prosfilaes 00:06, 3 February 2006 (UTC)

You are missing the fundamental point: women with Turner syndrome don't have working ovaries by the time they have grown up. Notwithstanding an isolated case report or two of pregnancy which probably represents occult mosaicism, there are no biological children of women with Turner syndrome, so speculation about whether they would inherit it is like asking, "if a child was born without legs would he walk with a limp?". alteripse 02:59, 4 February 2006 (UTC)

Hoping to clarify this, I added a PMID for case case report of a preganancy in a 45,X patient. The abstract suggests that birth defects are more common in spontaneous (not IVF) pregnancies, when they occur, which is quite rarely. There is a literature review of Turner pregnancies, that does mention an increase in Turner and Down syndrome, probably due to nondisjunction, not Mendelian inheritance, and I added this as well.Pustelnik 14:03, 18 August 2007 (UTC)

The article says that 'While there are cases of women with Turner syndrome becoming pregnant, they are very rare.' You're welcome to clarify or fix it, but don't snap at me because of it.--Prosfilaes 05:30, 4 February 2006 (UTC)

Sorry for offense. I was hoping you would realize it was sort of a "Doh" question, but its not like I have never asked one about anything myself. It seems impossible to have a haploid egg or sperm with no sex chromosome, so you would have to posit a loss of the second X chromosome after fertilization but before many cell divisions-- a re-enactment of the chance mechanism that occurred to the mother when she was a mere zygote. One would assume the high spontanous abortion rate would be a further statistical obstacle even if one hypothesises a genetically transmissible trait that increases nondisjunction rates. Finally, I do not think any specific defects were noted in the handful of children born to mothers with mosaicism because presumably they were born from an egg that had an X. Is that clearer? alteripse 10:30, 4 February 2006 (UTC)

Do you have a citation for somatic nondisjunction being the only way to get Turner syndrome? I have several suggesting that the error is in meiosis (not excluding cases of somatic nondisjunction, particularly with mosaicism). ([1][2], Nature Reviews Genetics, Apr2001, Vol. 2 Issue 4, p280).Ted 20:48, 30 March 2006 (UTC)

I am a 34 year old Norwegian female with Turner syndrome (mosaic 45,x/46,XX). I became spontanousely pregnant and I have a perfectly normal six year old son. I know a little genetics from my university studies. I am still a bit confused and anxious. If I tried to get another ichild, would the possibility of a chromosome disorder be greater than normal? I guess the big question is: Will one of my abnormal cells divide and produce egg cells or is it just my normal cells who produce egg cells? Would an eggcell without a sex chromosome be able to mature and produce a follicle at all?

If anyone have any information on the matter, or any information about any other female with Turner syndrone who spontanousely became pregnant, I would greatly appreciate it. Please Email me: lenef(at)sensewave(dot)com

You need to ask your doctor those questions. Speaking theoretically, pregnancies and deliveries are uncommon enough and the varieties and degrees of mosaicism varied enough that I don't think anyone can give you a statistical probability. I have never heard of a two generation transmission and it seems unlikely based on the theoretical reasons above, but I haven't searched for one either, so do not rely on this answer as authoritative. Best wishes to you. alteripse 01:18, 28 February 2006 (UTC)

As alteripse said, see a doctor (or, better yet, a genetic counselor). Mosaicism is quite variable from tissue to tissue, as well as overall fractions. If an XO cell were to undergo meiosis, it would undergo nondisjunction, leading to a higher incidence of Turner embryos. However, a fertile female with Turner mosaic may very well not have any XO cells in the ovaries (or very small percentage). Ted 20:48, 30 March 2006 (UTC)

I think it is fairly common for TS women to have a child through a donor egg. Also, lenef, I don't reccomend posting your e-mail address as a whole on a public discussion. :-)138.87.219.245 00:37, 5 February 2007 (UTC)sorchah

By "spontanousely pregnant" do you mean without sperm or do you mean without extraordinary effort such as IVF?

Genetics

I just read TedE's re-write of the (re-named) Genetics section. It's very informative, and I think it really improves the article. I checked the source given, however, and found that there are a few slight errors in how the information is being related in this article.

First, the article currently says that 45X is caused by the sperm or the egg losing an X, implying that it always occurs prior to conception. The article that is cited as a source presents this as one possibility, but also says "At the time of conception or in the period soon afterwards, when the fertilised egg is divinding to form new cells in the body, a mistake can occur in which one X chromosome is lost, leaving 45 chromosomes including one X chromosome. " This article should note this as another possible way for an individual to have the 45X karyotype.

Secondly (or perhaps the second part of the first point, depending on how you look at it), when this article covers the loss of a chromosome soon after fertilisation, it implies that this always results in mosaicism. In fact, the source says "[W]hen a mistake in cell division occurs soon after conception, the chromosomes in the cells of the girls may show two different patterns" (emphasis added).

Finally, this re-write cut out all mention of the possibility of a Y chromosome having ever been present in the genetics of a woman with Turner's syndrome. From the source given: '"Very rarely, cells that contain part of the Y chromosome may exist in a person with Turner syndrome." It may be very rare, but as it is true, it needs to be mentioned at least briefly. Unlike the other possible Turner karyotypes, the source article glosses over this one without explaining how it occurs. Additional sources will need to be found to fill in this gap.

I'm willing to help correct these errors, and I think the first two points are the most important and should be corrected first. I would have done those two myself instead of just pointing them out here on the talk page, but I'm not sure how to work these in without once again radically altering the general format of that section. TedE did such a good job of organizing it that I'm hoping that someone else can see a way to work in these few omitted facts without destroying TedE's clear, easy to read structure. --Icarus 04:27, 1 April 2006 (UTC)

Let me see what I can do. I didn't want to get to complicated - let's see how successful the next edit is. Ted 04:41, 1 April 2006 (UTC)

Turner's Mosaic

What is Turner's mosaic? How does it relate to Turner's syndrome?

Look at Turner_syndrome#Genetics. The third bullet talks about Mosaic Turner syndrome. Ted 22:13, 12 June 2006 (UTC)

photo of Karyotype

I can hardly beleave that kariotypes are copurighted.Seance we alredy have a photo of normal Karyotype and aparently no turneur or other kariotype.Couldn't we simply make one by deleating the chromosome in the normal photo, same proposition for auther phenotypes.also , replace some ,or all the other chromosome whith ther miror or flip them in order that the manipulation don't seems aparent to the reader.If we copy paste a singel chromosome from copyrighted images in order to recreate a full image (eventialy with sone public domain chromosomes),does this is considered as original work(in a legal sence,it is a rather boring creativity).What copyright laws can make us do.--87.64.6.217 20:50, 8 July 2006 (UTC)

Are you suggesting we forge a karyotype, using someone's copyrighted images of chromosomes? Instead, you might want to search the US government archives (many, but not all, images on US government sites are public domain) or the wikipedia commons for images. Another way to go is to modify an idiogram, like I did at Down syndrome. Ted^Talk/_{Contributions} 00:00, 9 July 2006 (UTC)

Well i expect that some public domain kariotype should floting somewher in the internet.At my noleg the copyright is not inforst any more ,if the derivative work is sufichently diferent from , the original, so it's not forgery.Why modify an idiogram ,when you can have a picture with real chromosomes.If you deleat the Y chromosome ,of a picture that is alredy in the commons ,dada ,you have a turneur syndrom ,karyotype ,i 'm sujesting this ,since aparently ,we haven't one yet.The kariotype in the first place is made like this,from a photo of a exploded nucleus, they simply rearenge the chromosomes ,so that they apeire in pairs, and not in a mess.--87.65.194.100 14:38, 12 July 2006 (UTC)

role of ovaries

This is a great article but I think a few points need expanding.

I think the role of the ovaries is not discussed well in this article. I was taught that in Turners syndrom the ovaries fail to devolop properly, a smear of tissue is present where they should be but this is incabable of producing eggs or hormones. (Though this article suggests that this is not always the case). Many/Some? of the symptoms of Turners syndrome follow on from the fact that the person in question is essentially a eunuch. The article does state that one of the smptoms of Turners is ammenorrea (no periods) and that androgens may be given to allow a normal puberty, but the underlying reasons and principles for these bald facts are not described.

If somebody does not have sexual organs (e.g. a eunuch) then you don't go through puberty and your bones take longer to fuse, resulting in your being taller (Note that in castrati (singers) the men had legendary breath control, prob because the lungs could grow for longer due to the bones fusing later). So then why are Turners syndrome people shorter? Of course missing a whole chromosome is bound to have effects other than simply messing with ovarian development, but is there a detailed explanation for this?

Also missing a normal chromosome will usually be embryonic lethal, the X chrosmosome is special case, perhaps some explanation? 141.5.194.4 14:21, 8 August 2006 (UTC)

You have many mistaken assumptions in your questions. Eunuchoidism is largely irrelevant to Turner syndrome. The absent ovarian function has nothing to do with the shortness, which results from the loss of important growth genes on the X chromosome, and begins in infancy. Estrogens, not androgens, are given to girls with Turner syndrome to induce puberty-- they are not deficient in androgens. Androgens in the form of anabolic steroids have occasionally been used to amplify growth but never to induce puberty. Missing a second sex chromosome is usually lethal: most Turner embryos do not even make it halfway to term. The reason some survive is that there are fewer genes on the X necessary for life: males must be able to survive with only one X chromosome. alteripse 16:46, 8 August 2006 (UTC)

However, it must be noted that at least some of the genes on an X are needed, as a OY situation is nonconducive to life. This also leads away from the thought that a Y is just a crippled XUnseemlyWeasel 02:56, 14 September 2006 (UTC)

Can someone help me?

I was diagnosed with Turner's syndrome about 3 and a half years ago. I am 30 years old. I was told growing up that my growth was stunted and the reason for no menstrual cycle was because I had a thyroid problem. If anyone has anything to tell me reguarding what can I do now, is it too late to take hormones? How will I ever have children? Can someone help me? sweetz1on1@comcast.net —The preceding unsigned comment was added by 69.253.219.87 (talk) 03:49, 10 May 2007 (UTC).

I'm afraid you've come to the wrong place if you're seeking personal advice. We are Wikipedians - not doctors. Although we know what Turner syndrome is, we cannot take responsibility to give diagnoses and prognoses to individual people, even if we knew what the problem was. I simply advice you to see your doctor or gynaecologist. Mikael Häggström 16:53, 3 August 2007 (UTC)

My suggestions are (1) see a good endocrinologist, preferably someone who sees many Turner's syndrome people. Turner (the person the syndrome is named after) was himself an endocrinologist and I personally have found endocrinologists know the most about the syndrome. I believe in Seattle there is even a Turner's clinic with doctors who specialize in treating Turner's syndrome. (2) The US Turner's syndrome society http://www.turnersyndrome.org/ has more information and they also sponsor an annual meeting where you can go and meet other Turner's syndrome people and learn the latest resarch about Turner's from doctors doing research. They also list local support groups. I believe there is also a bulletin board where you can post messages and read about other people w/ Turner's. (3) If you're 30 years old, I'm afraid you are not a candidate for growth hormones. But your doctor will be able to work with you and determine what is best for you at this point in your life. SL2007 14:21, 19 August 2007 (UTC)

GendersInX

== Support Community for People with Genetic anomalies

Hello;

The purpose of this site is to positively reassure those who have a genetic anomaly to their make up and that they are not alone. It includes Klinefelter's Syndrome, Turner's Syndrome, Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia including all variants thereof. Parent's of children who have any of these are most welcome to encourage each other and exchange notes.

My name is André and I am Klinefelter XXY Mosaic. I have been diagnosed in 1985 at the tender age of 22. I am the creator and administrator of GendersInX. I strive to ensure that all aspects of Klinefelter's, Turner's, Androgen Insensitivity Syndromes and Congenital Adrenal Hyperplasia are addressed and positively reinforced. This site is not meant to be competing with any other site rather it's meant as another option.

The name GendersInX stems from what we have in common, the X Chromosome. Through this X Chromosome, we see so many different variants like some of the X chromosomes have been dropped, gained and stayed the same but definitely does not fit the norm in our society as we now know it. I believe this will change.

This could be a "feel good" site but it's more realistic than that. I know that there are many things that can get us down in life never mind what medications and additional issues we have to deal with. Once in a while, it's good to be reassured that we are doing the right thing, that going on is a good choice, that the feeling of emptiness and wanting is shared and that we are in it together. Friends are forged in terrible times, I'm pretty sure you will find one here. It is important that we can go somewhere and not be judged in what we think and how we cope.

I have provided many forums for the individual conditions and variants thereof. It is also important to address those who feel that they do not belong to a specific gender as a direct or indirect result of these syndromes or conditions, so forums such as gender dysphoria and intersex are provided. Also included are forums for those who need to express thier beliefs as a part of coping with a syndrome. The format in each of those forums are the same with each focused on that particular syndrome or variant thereof. Each of these forums are moderated by a person of that syndrome or condition. You certainly can refer to them or me, as you wish.

Life isn't made from peaches and cream or is flowery by any means. It is, however, nice to relax somewhere where judgment is left on the outside. I hope I can provide that for you and with you.

Sincerely yours,

André GendersInX@Gmail.com www.GendersInX.org (April 25, 2007)

Folks;

GendersInx has gone through some changes and more information has come to light. I would encourage those of Turner's to come a help us get to know what that is all about. We currently have a moderator who has Turner's and she is doing all she can to teach us of herself. I encourage you to come a check the site out. Teach us and I promise you will learn something in the process.

This talk page mainly is a place to discuss changes in the article. However, I'm very touched, and I hope all people in need will find support in others with the same problem at the site. I made a link to the page at external links. You may change its text if you like (that's what Wikipedia is all about). Mikael Häggström 17:02, 3 August 2007 (UTC)

Conflict

There appears to be a slight conflict. It says that very early nondisjunction in the zygote can cause total 45,XO in kerotype, and admits that in such cases it is therefore indistinguishable from nondisjunction in the gamete before fertilization. Later it then states that 20% of the cases have some form of mosaicism. Does this mean that the early zygote nondisjunction is not mosaicism (because it's uniformly changed?). If so (which I think is the case), this should be worded differently to not precisely include it in mosaicism. If this isn't the case, then how do they know that those cases are mosaic cases, if it's indistinguishable from gamete nondisjunction? McKay 20:31, 26 July 2007 (UTC)

A very early nondisjunction from a 46,XY zygote to be completely 45,XO in karyotype isn't a mosaicism, just as you thought was the case. It requires a bit of cleanup. Mikael Häggström 17:14, 3 August 2007 (UTC)

Undated sentence

I found this undated sentence at the top of the page:

This article has been VANDALISED. Somebody should reverse the changes!!!!

Since the page looks good for now, I thought it could be taken down for a while. Mikael Häggström 17:16, 3 August 2007 (UTC)

Celiac Disease

I think the article should mention there is a link between Turner's syndrome and celiac disease. Celiac disease is difficult to diagnose so it is important for Turner's syndrome people to be aware of the disease and its symptoms.

SL2007 15:21, 18 August 2007 (UTC)

Skeletal abnormalities - needs correction

Section 7.2 Prognosis/Skeletal says, "The fourth metacarpal bone (fourth toe and ring finger) may be unusually short." Apparently it should read, "The fourth metacarpal bone (ring finger) may be unusually short." Is there also shortening of the fourth metatarsal? In that case it would read, "The fourth metatarsal and metacarpal bones (fourth toe and ring finger) may be unusually short." I have not seen a report of metatarsal shortening, but not being an expert I want to leave the correction to someone who really knows.

[User:Steve Wise] 13:32, 1 October 2007 (UTC)

I'm a 44 yr old Turner's woman from the midwest who does have shortening of the fourth metatarsal of on my left foot, so yes it does happen. —Preceding unsigned comment added by 206.144.44.130 (talk) 05:32, 6 May 2011 (UTC)

Sloth syndrome

Google doesn't seem to support this alternative terminology -- and it looks like an article called "Sloth syndrome" has been deleted. Is the term somebody's joke, or can anybody source it? Dybryd 04:17, 14 October 2007 (UTC)

Nope. That's bogus in the extreme, as is the now-deleted Sloth Syndrome article. Removing ... - Alison ^❤ 05:11, 14 October 2007 (UTC)

grammar.... sort of

Is "[the embryo] spontaneously abort" correct? Would not it me "more correct" (or just correct) something like "undergo spontaneous abortion"? To me seems that the one who aborts is the gestant, and the embryo or fetus does not "abort", but "is aborted"... but I don't really know. --Extremophile 14:23, 23 October 2007 (UTC)

Frequency

With no citation, I removed the 1 in 5,000 number. It may well be that it meant live births which would be a restatement of 1 in 2,500 female births. Novangelis (talk) 01:06, 15 February 2008 (UTC)

The estimated number I've seen is 0.0369 per 100 live births (Blackless et al 2000). Which is... er... 1/2,702.702 live births not 1/2,500 female births. Can anyone confirm that with a second source? ShadowNowAlas (talk) 23:28, 24 July 2009 (UTC)

45, X and estrogen

I just did some editing regarding the karyotype format. The convention these days is to say 45,X rather than 45,XO, so I changed all of the latter to the former. Here's one source: Thompson and Thompson, Genetics in Medicine, page 165. http://books.google.com/books?id=8kvI4t47hV8C&printsec=titlepage&dq=45x+45xo&source=gbs_toc_s&cad=1

I also emphasized the importance of estrogen replacement to bone health. Many women with TS don't realize how crucial it is, but unless they have spontaneous ovarian function, they really need estrogen therapy to avoid osteoporosis. Shippingpetals (talk) 18:21, 10 March 2008 (UTC)

A Request

It'd be nice if a note could be included on specifically which protein/gene functions prove deficient that such wide-ranging abnormalities occur, considering the fact that the missing chromosome is the X one, which is any way (randomly) silenced (in the form of Barr body) in the majority of cell, and as it can be safely assumed that the other X chromosome is normally functional (meaning, probably can compensate for the absence of genes of the other X chromosome).

Hope, I'm making sense, and if not, some one would correct me.

Bye. Regards. Ketan Panchal, MBBS (talk) 14:39, 29 April 2008 (UTC)

As far as I am aware, it is not yet known which specific protein(s) are responsible for the wide variety of symptoms present in Turner's. Also, as mentioned in previous posts, the way the disease manifests can be very different with different people, which is why it is called a SYNDROME. SL2007 (talk) 16:26, 1 February 2013 (UTC)

The Condition by Jennifer Haigh

New book by Jennifer Haigh - one of the protagonists has Turner syndrome. Is this worth mentioning in the article? It's a well-reviewed significant book. Tomandlu (talk) 12:03, 24 July 2008 (UTC)

"Missing X chromosome"

Folks, individuals with TS are not "missing an X chromosome," they're missing *a* sex chromosome. If it is the father's sex chromosome that is missing, who is to know which it was "supposed" to be?

Further, we're finding more and more individuals of both genders with xy:xo mosaicism. Eventually, all of them (both male and female) will be diagnosed with TS. Shouldn't we start reducing the use of the word "female" in the definitions?

• No. Monosomy X [the most common form] results in a female individual with one X chromosome, when a female individual should have two. The classification of what is missing is based on what they are, not what they might have been. Herr Gruber (talk) 05:20, 6 November 2009 (UTC)

• Yes, monosomy does result in a female individual, typically. However, the more mosaics we are finding, the more we are seeing male individuals with mosaic X0/XY as well as females with X0/XY. —Preceding unsigned comment added by 67.49.9.23 (talk) 02:36, 12 April 2010 (UTC)

• I disagree with Herr. From a genetic standpoint people with TS are not missing an X any more than they're missing a Y. It's nonsense, medically, to speak about "missing an X." Like you said, it's about what you are -- 45X - not what you could be.. Johnny^California 01:59, 14 November 2010 (UTC)

{{Subst:interrupted/broadwayfairie}} * hello, i was just reading this and i must agree with what you are saying. i just recently had a miscarriage, but the baby had to be removed by surgery. i asked for it to be tested. when the results came back, my doctor told me it was a girl and she had Turner Syndrome and that she was missing a Y. which seems to me, proves what you are saying to be true. Broadwayfairie (talk) 15:10, 27 September 2011 (UTC)

• I'll add that I agree with the use of the term "female" to describe patients. They are females. But I disagree with the introduction, which explains the disorder as "lacking an X." If you lack a Y chromosome, you are also female. It should be changed to read "lacking a second sex chromosome" Johnny^California 03:13, 14 November 2010 (UTC)

Monosomy X vs normal X-inactivation

Something just struck me: Turner Syndrome equals 'monosomy X', but normal female genetic development includes the all important X-inactivation, creating a Barr body in the cytoplasm. Apparently some dormant genetic properties in the inactivated X causes a/THE? difference between inactivation and monosomy X. Does anyone know more about this (prenatal/postnatal effects of the inactivated X?) —Preceding unsigned comment added by Chbse (talk • contribs) 12:04, 13 November 2009 (UTC)

see this article: http://en.wikipedia.org/wiki/Pseudoautosomal_region —Preceding unsigned comment added by 149.148.162.16 (talk) 16:20, 11 June 2010 (UTC)

The Signs of Turner's Syndrome

I am a college student that was diagnosed with mosaic Turner's Syndrome at the age of 14. I found this article very informative and correct in its information. I would also like to stress that as a young woman living with Turner's Syndrome, this was not an offensive article in any way. It discussed problems that a girl with Turner's Syndrome WILL face, an example being, I already know that having children by natural means is highly unlikely. My only suggestion would be this, you do a wonderful job with mentioning the characteristics of Turner's Syndrome but do not stress that these characteristics depend on the severity of the condition and all characteristics may not be present. This could make a big difference to a teenager who wasn't diagnosed early (like me) because had an article I found not stressed the fact that some characteristics will not show, I would not have asked my doctor to be tested and my ovaries would have likely failed before I received treatment. These are not things your doctor will likely notice in a standard check-up, as a matter of fact, my doctors were confident I would sprout-up at any moment and said I was just "a little behind". A young lady could be teased (as I was) for being so small but not have a webbed neck, or have a "flat chest" and not have a low hairline. A girl with Turner's Syndrome can actually appear quite normal and not notice a problem until she reaches an age where lack in development is critical. Keep up the great work, I am sorry for the long response but I really wanted to help! THANK YOU! — Preceding unsigned comment added by Tsawareness (talk • contribs) 17:19, 16 April 2011 (UTC)

What's a "Phenotypic Female"?

As a non-medically-trained person, I found the "Occurring in 1 in 2000 – 1 in 5000 phenotypic females" phrase to be very confusing. Does that mean that out of every 2,000 to 5,000 patients who have some of the outward characteristics, such as short stature with low-set ears, one is found to have Turner syndrome? In my opinion, a Wikipedia article should avoid technical jargon, especially badly-written technical jargon, when a plain-English explanation will serve. Rclocher3 (talk) 19:52, 1 February 2013 (UTC)

The word "phenotype" means having the appearance of; or having the outward manifestation of. People with Turner's syndrome are phenotypically female, i.e. their appearance is female. The statistic you cite means if you look at 5000 people who have the outward appearance of being female, you expect to find 1 person with Turner's syndrome. Hope that helps. SL2007 (talk) 13:53, 1 April 2013 (UTC)

A simpler way to write it may be something like "1 in 4000- 1 in 10000 of the total population", since roughly half are phenotypically female, but that might fall into WP:OR/WP:SYNTHESIS depending on the source. 63.152.120.74 (talk) 06:26, 22 August 2013 (UTC)

im thankful

I have turner syndrome and would like to thsnk people that have shined a light on people tht have it and have been there for me through it all – — Preceding unsigned comment added by 98.89.162.116 (talk) 19:30, 12 January 2014 (UTC)

Normal lives

Not sure where it says most live normal lives[3] Doc James (talk · contribs · email) 21:19, 23 January 2017 (UTC)

Protection

Have protected this article for 3 days as we have two brand new accounts attempting to add details without providing any sources in violation of WP:V. I invite them to join the discussion here. Doc James (talk · contribs · email) 22:06, 23 January 2017 (UTC)

Heading

Should Anomalous venous drainage be changed to partial anomalous pulmonary venous connection --Iztwoz (talk) 21:06, 31 July 2017 (UTC)

In reference to symptoms

Due to the low estrogen levels in Turner's syndrome isn't the loss or absence of a menstruation also a symptom, otherwise known as "amenorrhea"? Mr.wrightnow16 (talk) 22:58, 24 January 2019 (UTC)

"45,X" not "45,XO"

@Þjarkur and Doc James: As discussed 11 years ago, above, the term, "45,XO" is incorrect. This question was brought to this talk page, but there was no response (either way) and has remained as "XO" since then. The citation from 2008 is Thompson and Thompson, Genetics in Medicine. p. 165..

The standard now is to use "45,X". "45,XO" implies there exists a "O" chromosome. Some writers still use "45,XO", but it is preferred to use "45,X". Just beucase "45,XO" is used, doesn't mean it's correct. The definitive tome on nomenclature confirms this position. It is a pertinent (and perhaps dispositve) citation: An International System for Human Cytogenomic Nomenclature. 2016. p. 55.:

• 45,X—A karyotype with one X chromosome (Turner syndrome).
• Mos 47,XXX/45,X/46,XX—A mosaic karyotype with two abnormal cell lines.
• 45,X,-X—A tumor karyotype in a female with loss of one X chromosome.
• 45,X,-Y—A tumor karyotype in a male with loss of one X chromosome.

I suggest making it be changed to "45,X" here and throughout Wikipedia. —GoldRingChip 16:35, 18 March 2019 (UTC)

Is it possible to be XY and drop the Y?

this article states female, but is it possible as male condition --Hartz (talk) 20:35, 6 May 2019 (UTC)

Yes. I'm considering editing the article on this basis, the article consistently refers to those with Turner syndrome as females and while the classical form (45,X) does always result phenotypical females, there are variants that do not. A rare variant of Turner syndrome is having ring chromosome Y - karyotype 46,Xr(Y) - which can result in anything from male to female phenotype. There's also various mosaicisms which can result in male phenotype: 45,X/46,XY or 45,X/46,Xr(Y). All of these are mentioned in the article, and yet it still uses "female". The question is whether these are considered separate conditions from Turner syndrome or not - 45,X/46,XY mosaicism already has its own article, at least. It's even possible to be 45,X/47,XXY or 45,X/46,XY/47,XXY mosaic and male, there are reported cases in literature. Maybe it would be better to add a section about variant forms explaining that they can cause male phenotype, like Klinefelter_syndrome#Variations does for Klinefelter syndrome and related conditions, another sex chromosome aneuploidy?

- Oosting (talk) 21:40, 19 June 2020 (UTC)

"The question is whether these are considered separate conditions from Turner syndrome or not [...] Maybe it would be better to add a section about variant forms explaining that they can cause male phenotype".

A different section should be added for these conditions. Otherwise, the article should refer to Turner syndrome as females. 2A02:2F01:58FF:FFFF:0:0:6465:58CD (talk) 02:52, 2 January 2021 (UTC)

I am against adding information about male Turner syndrome. Because many sources say it only affects females.

“Turner syndrome, a condition that affects only females”

https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

“Turner syndrome only occurs in females. [11]”

https://emedicine.medscape.com/article/949681-overview#a8

“Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls.” https://www.nhs.uk/conditions/turner-syndrome/

So yeahCycoMa (talk) 15:29, 9 April 2021 (UTC)

Is this really the only free image?

People have been bringing up for years that the lead image on this article is terrible and it's almost impossible to make out any of the subject's features. I've been working a lot lately on sex chromosome aneuploidy articles, and I really think it's time for some serious discussion of this image and its alternatives. Are there no patient organizations willing to reply to emails? No women with the condition interested in the article? No friends or relatives of editors? Vaticidalprophet 09:53, 9 April 2021 (UTC)

History note

In the period 4 to 15 July 2021, the section Turner syndrome#Presentation was edited in User:Vaticidalprophet/Turner syndrome. Anthony Appleyard (talk) 16:33, 15 July 2021 (UTC)

Missing one is Y

They are males and missing the Y chromosome. Thank me later. 71.202.21.101 (talk) 04:06, 16 July 2021 (UTC)

Not Linda Hunt

The article on Linda Hunt no longer states that she has Turner's Syndrome. That articles talk page has discussion about it. Delete sentence about this? Polypipe Wrangler (talk) 12:16, 27 August 2021 (UTC)