Talk:Turner syndrome

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

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Information from Turner syndrome appeared on Portal:Medicine in the Did you know section on June 26, 2006.

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

Contents 1 Turner syndrome is not a form of intersexuality 2 Too long intro. 3 Good article 4 Other Sexual Chromosone disorders 5 Inheritable? 6 Genetics 7 Turner's Mosaic 8 photo of Karyotype 9 role of ovaries

[edit] 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)

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)

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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)

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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

[edit] 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.

[edit] 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)

[edit] Other Sexual Chromosone 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)

[edit] 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)

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

[edit] 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)

[edit] 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)

[edit] 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)

[edit] 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)