FAQ • Turner Syndrome

FAQ - Turner Syndrome
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What biotechnological applications are currently being used to fight turner syndrome?

What health complications can develop as a result of having Turner syndrome?

This is what I found...

What are the primary characteristics of Turner syndrome?
Short stature

The most common feature of Turner syndrome is short stature. The average height of an adult TS woman who has received human growth hormone treatment is 4’8”. Individuals tend to be a little shorter at birth, averaging 18.5” compared to an average of 20” for all girls. Growth failure continues after birth, and most girls with TS fall below the normal female growth curve for height during early childhood. TS girls who are not treated with hormone replacement usually do not have a pubertal growth spurt; many will continue to grow at a slow rate until they are in their twenties. Many girls who undergo growth hormone treatment have been able to achieve adult height within the lower range of normal.

Premature ovarian failure

Most (90%) TS individuals will experience early ovarian failure. The ovaries produce eggs and hormones necessary for the development of secondary sexual characteristics. Estrogen replacement therapy is necessary for breast development, feminine body contours, menstruation and proper bone development. About a third of TS individuals will show some signs of breast development without estrogen treatment; however, many will not complete puberty, and those that do often have premature ovarian failure. Therefore, the majority of individuals will require estrogen from puberty until the normal age of menopause. Fertility without assisted reproduction therapy is rare (less than 1%).

Physical features

Many characteristic features are associated with Turner syndrome. Their presence and severity vary greatly from individual to individual.

Narrow, high-arched palate (roof of the mouth)
Retrognathia (receding lower jaw)
Low-set ears
Low hairline
Webbed neck
Slight droop to eyes
Strabismus (lazy eye)
Broad chest
Cubitus valgus (arms that turn out slightly at the elbows)
Scoliosis (curvature of the spine)
Flat feet
Small, narrow fingernails and toenails that turn up
Short fourth metacarpals (the ends of these bones form the knuckles)
Edema of hands and feet, especially at birth
Intelligence - TS individuals are on average of normal overall intelligence with the same variance as the general population. They do, however, often have difficulty with spatial-temporal processing (imagining objects in relation to each other), nonverbal memory and attention. This may cause problems with math, sense of direction, manual dexterity and social skills. New and better ways to compensate for these problems, which fall under the general category of nonverbal learning disabilities, are being researched.
What are the associated risks with Turner Syndrome?
Several medical problems occur more frequently in individuals with Turner syndrome than in the general population. It is important that TS individuals are screened regularly to see if any of these problems exist. Most of these conditions can be managed successfully with good medical care.

Heart

Some form of cardiac abnormality occurs in approximately one-third of TS patients. Problems are primarily left-sided and may include coarctation (narrowing) of the aorta and bicuspid aortic valve (a valve with two leaflets instead of the usual three). TS individuals are also at higher risk for hypertensionor high blood pressure. TS patients should receive an echocardiogram or MRI to evaluate the heart at the time of diagnosis regardless of age and have their heart re-evaluated periodically for aortic root enlargement. All individuals with TS should be aware of the symptoms of dissection of the aorta, an uncommon but life-threatening complication. These include sudden, severe, sharp, stabbing, tearing, or ripping chest pain, intense anxiety, rapid pulse, profuse sweating, nausea and vomiting, dizziness, fainting or shortness of breath.

Kidney

Thirty percent of TS individuals will have kidney abnormalities. Many of the abnormalities do not cause any medical problems; however, some may result in urinary tract infections and an increased risk of hypertension. It is recommended that TS individuals receive a renal ultrasound examination at the time of diagnosis.

Thyroid

Hypothyroidism (low level of thyroid hormone) caused by autoimmune thyroiditis (inflammation of thyroid gland) occurs frequently in individuals with TS. It can be diagnosed with a blood test and is easily treated with thyroid hormone.

Ears

Otitis media (ear infection) is extremely common in TS girls particularly in infancy and early childhood. Aggressive treatment of infections is appropriate. The majority (50-90%) of TS women will also develop early sensorineural (nerve) hearing loss and may require hearing aids earlier than the general population. (+ info)

could it be possible for a infant to have both turner syndrome and down syndrome?

I am curious because my cousin's baby has all the features of a down syndrome baby but she said that her baby has turners syndrome....could it be possible that she has both syndromes??

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Well,to find out the baby has Turner syndrome, that means that there was genetic testing done to look at the chromosomes. Therefore, Down syndrome would have also been determined. Many syndromes have some of the same physical characteristics, I would suggest doing some research on Turner syndrome online or at the library and you will learn a lot more about the characteristics both physical and developmental. And please dont refer to our children as "Down syndrome baby or Turner syndrome baby" they are a BABY first so refer to this as "baby WITH Down syndrome or baby WITH Turner syndrome" thank you. A syndrome doesnt make a person, it is not what they ARE its something they HAVE. That always sounds so wierd to me when I hear that, like they are their own race or something. I experience this a lot, even with professionals. My son has Mosaic Down syndrome. (+ info)

Is genetic testing available for people with Turner Syndrome?

Im doing a school project on turners syndrome and i was wondering if genetic testing was available for females with this disorder

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If you mean genetic testing to diagnose TS, yes, that is how it is diagnosed. There is a test called a karyotype which takes a number of cells and looks at the chromosomes in those cells. A number of chromosomal disorders are diagnosed this way, including Down syndrome, Turner syndrome and Klinefelter's syndrome. (+ info)

can my newborn be diagnosed with turner syndrome?

my first baby was diagnosed with turner syndrome. And we are planning on having another baby but we want to know if we have another baby will it be diagnosed with turner syndrome

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it's almost certain the next baby will not have Turner syndrome.. 100% certain if it's a boy. very very low chance if it's a girl. Turner syndrome is "sporadic" it just happens...it is not considered hereditary since almost all females with the condition are infertile.. You can get genetic testing but the risk is so low it's not worth it.........my 2nd child has turner syndrome and even when i found out i was having another girl i never worried she'd have it too......... (+ info)

Can you please help me answer this question on turner syndrome?

Ok so I found out lately that I have turners syndrome....and i was wondering....for one can like my heart, liver and kidneys be healthy and normal at one time and the next time i go to the doctor there could be something wrong with them because of me having ts?
And if i have "streak ovaries" does that mean that I could still get pregnant when I get older?

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knowing how old you are would help.
as for heart liver and kidneys, when diagnosed you will need these scanned if fine then once you are 18 (or if you already are) you will need a heart scan every 3-5 years to look for changes in the valve, If changes are seen an operation will be done and it's quite successful.. Make sure you push for these scans from 18 even if a 1st scan shows normal. Blood tests must be done every 12 months minimum to look for other changes liver kidneys, diabetes , thyroid function etc.
As for you streak ovaries chances are you will need help to have a baby IVF with donor eggs. A lot depends on if you have classic TS(XO) or Mosaic , with classic natural pregnancy is very rare, although not unheard of, with Mosaic it's still rare but more common than with classic TS.
depending on your age growth hormones may help you get taller and you will also need female hormones (often HRT patches) to give you the hormones you lack.

edit Estrogen will not help ovaries grow normally, it is for breast development and other thing associated with puberty changes,,also it give the hormones that a TS girl/lady lacks so helps prevent osteoporosis. It also helps womb development which is useful in assisted pregnancy (IVF) or for the few who do get pregnant naturally (+ info)

Anyone have a baby with Turner Syndrome?

I'm 17 weeks, and just found out through amniocentesis that our baby girl has MOSAIC Turner Syndrome. I'm worried about what that might mean for her and for us. Just wanted to hear from anyone who has a girl with this, and if so, is it "classic" Turners, or mosaic form?

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I have TS myself, full 45XO, not mosaic. I think the most important things are 1) make sure she is getting good medical care from the very beginning from people knowledgeable about TS (the Turner Syndrome Society of the US is a great source for keeping up to date on medical research) and 2) don't ever treat her differently or assume she can't do something because she has TS. (+ info)

What are the possible genotypes of parents who produce a child with Turner Syndrome?

Turner syndrome is a chromosomal disorder that results in a sex chromasome complement of XO. The parents can have completely normal genotypes and still produce a child with Turner's syndrome. It is the gametes (either the sperm or the egg) of the parents that has an incorrect chromasomal complement which can be caused during meiosis of the gametes. I have a friend, who has Turner's syndrome, who's parents have totally normal genotypes. (+ info)

does anyone out there have a child with turner syndrome?

i had an ultrasound today and the doctor said that there is a high chance the baby may have turner syndrome. we dont know the sex of the baby yet. and since turner syndrome only affects girls we are not sure if the baby has it or not. so i was looking for someone who has a child with turner syndrome that can possibly help me out.

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If the baby does have turner syndrome then it is a girl since it only affects females.
It can be picked up by ultra sound if the baby has neck swelling (my baby did when i was pregnant, but it was gone when she was born, at birth she was diagnosed with turner syndrome)
it can also be picked up if the baby has swelling on her hands and feet but is not often picked up on a scan.
Turner syndrome babies can also have a heart condition that can be picked up on a scan, while this is a serious heart defect, the operation for it is quite successful.
your baby may also be smaller than expected and although a symptom of turner syndrome that alone on a scan is not enough to point to the condition as they are in propertion just often smaller at birth than other babies. My daughter was 5lb 15 at birth where her 2 siblings were 7lb 4 and 7lb 2.. so not tiny but wuite a difference.
an amnio will show if the baby has turner syndrome but you need to weigh up if the risk of miscarriage is worth taking just to get an answer.
At 1st it can seem turner syndrome is awful but even with the heart condition (when corrected) most girls with Turner syndrome will lead a quite normal life. She will need treatment to help her grow and develop and health checks all her life even if she is not badly affected.
My daughter is 12yr old now, she's in mainstream senior school and works at the expected level, she does have a little trouble with maths and writing but is way ahead of her years for reading and is also very good at sports, singing, dancing, cheerleading , drama etc.she is smaller than all of her friends but is catching up all the time.
have you been given a reason why they susspect your baby may have turner syndrome??? as knowing that will help a LOT. (+ info)

i am just looking for any information on turner's syndrome in a male?

my son just turned 15 years old this month and has shown no signs of puberty. He was infected with the west nile virus, which caused encefilitis(spelling?), but the doctors are not sure if this is the cause of his undevelopment. They are also considering turner's as a cause. I don't know anything about this disease so if there is anyone out there who has informationon this syndrome affecting pre-pubesant males please respond.

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There is no such thing as Turner syndrome in males. By definition, everyone with Turner's syndrome has to be female.

Turner's syndrome means that you only have one X chromosome, where you would normally have two X chromosomes. In order to be male, you must have a Y chromosome though, so you can't be male and have Turner's syndrome. (+ info)

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