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What is Turner's Syndrome?

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  • Written By: Garry Crystal
  • Edited By: Niki Foster
  • Last Modified Date: 02 November 2016
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Turner's syndrome is a condition that affects approximately one in 2,000 females. The condition does not affect men, but they can have a similar condition called Noonan syndrome that is often mistakenly referred to as Turner's syndrome. Turner's occurs when one of the X chromosomes normally found in women is missing, or one or both are damaged. Chromosomes are the deoxyribonucleic acid (DNA) strands found in every cell in the body.

If one X chromosome is completely missing, the condition is medically designated as classic Turner's Syndrome. The most common symptoms of classic Turner's syndrome include physical shortness and infertility due to non-development of the ovaries. Though the symptoms of this condition vary from female to female, they can include a very low hairline, a webbed neck, a wide chest with nipples that are spaced far apart, and low set ears. Other symptoms may include swollen looking hands and feet and the appearance of a variety of small birthmarks.

Women affected by this condition may also develop a number of internal organ irregularities. These can include kidney and heart disorders, problems with the thyroid gland, and bone disorders. There may also be a chance of hearing and vision impairment.

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In another form of this syndrome called Mosaic Turner's syndrome, only certain cells in the body are missing the X chromosomes. With this form of Turner's, there may be very few symptoms or none at all. Infertility may not be present in this form of the condition. Older women with Turner's are at increased risk of developing diabetes.

Diagnosis of Turner's depends on the symptoms present. The condition is usually diagnosed during childhood, but can also be detected while the baby is still developing in the womb. Diagnosis is usually confirmed through a blood test called a karyotype, in which the composition of the chromosomes is analyzed.

Treatment of Turner's syndrome usually begins during childhood. A pediatric endocrinologist, who specializes in hormones and the metabolism, must be consulted. Around the age of five, many girls are given hormone injections to combat the symptom of physical shortness. Anabolic steroids may also be proscribed to combat this problem.

At around the age of puberty, girls may undergo estrogen replacement therapy. This hormone, along with progesterone, is given to start breast development and induce monthly periods. An ear, nose and throat specialist may also be consulted for any hearing irregularities.

Women who have Turner's syndrome must have regular medical checkups throughout their lives. Although most women with this condition are infertile, there is often the possibility of pregnancy using donor embryos. Those with Turner's syndrome are able to lead as normal a life as possible despite their condition.

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closerfan12
Post 8

@katie23may, abcw93 -- I wonder if your doctors are talking about Noonan syndrome? I know it's often referred to as Male Turner's syndrome. Hope this helps.

anon41832
Post 4

One thing I would add to the information about donor embryos: because of the cardiovascular issues that can be associated with Turner Syndrome, it can be high risk to become pregnant. Pregnancy does put stress on the heart, and this can even lead to fatal consequences. So, anyone with this condition wishing to become pregnant should have their heart checked in advance (preferably with MRI rather than an echocardiogram, because MRI can often detect issues missed by an echo). And they should be carefully monitored throughout pregnancy.

To peterghayes, your daughter is so lucky to be able to have children! I also have mosaic Turners, and discussed this with the geneticist when I went in for a consult after the diagnosis. Yes, it is possible that Turners could be passed on to her child. It's also possible that her child would have two typical gender chromosomes (XX or XY).

abcw93
Post 3

In response to the lady with a son with turners. I too have a son who has mosaic turners syndrome and everything I read is only about females also.

peterghayes
Post 2

I have a daughter with mosaic Turners and she can still have children, the question is can her syndrome be passed to the child? thanks.

katie23may
Post 1

Well I guess I beg to differ. I am very frustrated. My son who is 46xy 45xo is diagnosed as having Turners Syndrome. We've been to the geneticist and they agree that is what he has, however when I try to go to support groups or other things to try to figure out information about turners, I get a door slammed in my face because everyone says "well that's not what he has". Well then maybe someone wants to fight with the 3 specialists that my son has who states he does in fact have it. So basically I am trying to find another Male with the same issues.

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