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Turner's Syndrome-A Woman's Disease

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Biology 103
2002 First Paper
On Serendip

Turner's Syndrome-A Woman's Disease

Melissa Brown

Imagine that you are 13 years old. All your friends are growing: they are getting taller; they are starting to menstruate; they seem to know exactly what to say at the right moment. You, on the other hand, are conspicuously shorter than your peers; you don't have your period and you seem to blurt out whatever comes to your mind. You would probably feel that you are awkward and begin to develop low self-esteem. This could be the life of a teenage girl with Turner's Syndrome.

Turner's Syndrome is a chromosomal problem that affects one in every 2000 females (1). So in the tri-college community, there may be at least one woman with Turner's Syndrome (TS). Although, you may not know someone with Turner's Syndrome it can safely be assumed that you have unknowingly encountered someone with the disease because of the frequency of the illness. Turner's Syndrome is named after Dr. Henry Turner who described some of the features of TS like short stature and increased skin folds in the neck(1). TS is sometimes also called Ullrich-Turner Syndrome because of the German pediatrician who, in 1930, also described the physical features of TS (1).

Why is it that TS only affects women? Well, TS arises from an abnormality in the sex chromosome pair. In the human body, there are 46 chromosomes grouped into 22 pairs of autosomes (all chromosomes that are not the sex chromosome) and the sex chromosome pair which influences whether a girl has TS. Men have a sex chromosome pair that is XY where the X chromosome comes from the mother and the Y chromosome comes from the father. Women have an XX chromosome pair with one X chromosome coming from the mother and the other X chromosome coming from the father. However, a female baby who has TS has only one X chromosome or is missing part of one X chromosome (1). The female baby receives only one X chromosome because either the egg or the sperm ended up without a chromosome when it was being split in half to make sex cells. The baby girl may be missing part of one X chromosome because there is a deficiency in the amount of genetic material (4).

TS is determined by looking at a picture of the chromosomes which is known as a karyotype. This technique was not developed until 1959(1). Karyotyping was not available to Dr. Turner and Dr. Ullrich in the 1930s. These doctors defined the disease by the physical features that a TS sufferer may have. Some of these are lymphoedema of hands and feet, or puffy hands and feet, broad chest and widely spaced nipples, droopy eyelids, low hairline and low-set ears. There are also clinical ailments that are associated with TS like hearing problems, myopia or short-sightedness, high blood pressure and osteoporosis. People who suffer from TS also have behavioral problems and learning difficulties (1), (3).

In spite of the physical, social and academic problems that a woman with TS may have, she can still be successful in life. Women who have TS have become lawyers, secretaries and mothers. It may be more challenging for a woman suffering with TS to accomplish her goals but they are not impossible. TS is a "cradle to grave" condition which means that it is lifelong and must be treated throughout the sufferer's life span (1). When the girl or woman has been diagnosed she should go under the care of an endocrinologist who is a doctor who specializes in hormones.

There are various medical methods that could be used to make the girl's life as normal as possible. Girls can have an average stature by undergoing growth hormone treatment before growth is completed. Oxandrolone, an anabolic steroid, can also be used to promote growth. Oestrogen is used when the girl is about 12 or 13 to produce physical changes like breast development and for the proper mineralization of bones. Progesterone should also be used at the appropriate time to start the period (1), (3).

Sufferers of TS also have problems like heart murmurs or the narrowing of the aorta which may require surgery. Women with TS are more prone to middle ear infections. If they recur frequently, they may lead to deafness so a consultation with an ear, throat and nose specialist would be helpful. Some of the health concerns of women with TS are encountered by all women. High blood pressure afflicts women with TS as well as diabetes and thyroid gland disorders but the latter afflicts women with TS at a slightly higher rate than non-sufferers of the disease. Osteoporosis may start earlier in TS sufferers because the women lack oestrogen so HRT (Hormone Replacement Therapy) may be considered to delay the onset of Osteoporosis (1), (3).

Women who have TS are further challenged socially because they are disruptive; they blurt out whatever comes to mind and have difficulty learning social skills. A recent study suggests that women with TS may be more disruptive depending on whether the X chromosome comes from the mother or the father. If the woman's X chromosome came from her mother she has more problems learning good social skills than a girl whose X chromosome came from her father. The study insinuates that the X chromosome from the mother instructs the girl to misbehave while the X chromosome from the father tells her to control herself (2).

A girl's disruptive behavior may make her feel uncomfortable in social situations. Her discomfort increases if she has difficulty speaking clearly. However, visits to a speech therapist can improve her ability to speak well. Such behavior can be particularly detrimental in school. Furthermore, people who have TS usually have learning disabilities so they find school less appealing. Parents should present teachers with a leaflet entitled "TS and Education, An Information Leaflet for Teachers" which will help the teacher better instruct the child in class and make learning a less burdensome activity(1).

School is where children and teenagers spend most of their time. For girls who suffer from TS school becomes less welcoming during the pubescent years when social, physical and academic skills are increasingly important. Negative experiences can bring about low self-esteem. Young women who suffer from TS should join a support group where they can find allies and express their feelings. Alternatively, the reticent girl can keep a journal where she can privately reveal her concerns about her life as a TS sufferer. Parents who notice that their daughter is being adversely affected by her inability to "fit in" with her comrades should seek professional help (3).

There are many challenges faced by women who have TS. Some of these challenges require a lot of medical assistance while others only require small alterations to the sufferer's daily life. TS is not an ailment that is intermittent or can be cured. The woman with TS lives with the syndrome every day for the rest of her life. It is important to remember that TS is not transmitted from person to person but it is a syndrome that is borne out of chance; the possibility randomly exists that a female embryo may not have two complete X chromosomes. Since TS does not affect men it can be overlooked despite the frequency with which women are born with it because we live in a patriarchal world. We, as women, should be allies to highlight the diseases that only women have.



1) Turner Support Syndrome Homepage,gives information about Turner's Syndrome to those interested in TS.
2) Bizarre Facts in Biology, unusual biological information from recent studies
3) TeensHealth. Provides information about health problems faced by teenagers.
4) Endocrinology and Turner's Syndrome, gives information about how endocrinology is helping those affected by Turner's Syndrome.

Comments made prior to 2007
Hi, my name is racheal(14) and i have an 11 year old sister Rebecca and she has turners syndrome! it is also difficult because she has some other problems such as bad rashes that break out on her back and face it is absolutly horrible my sister is 4 foot 2 inches tall and her best friend is 5 foot 3 inches. She is extremly self concious and she is embarrased about her size. My sister and i argue a lot and then when she gets in trouble i feel bad, i don't know if it is because i am not sure how it will effect her blood pressure or if it is because i don't know much about the disease and i want to learn more. I always wonder if she will live a normal life like me, and i wonder the most if she is going to live a long life like normal or is she going to die soon or when. She has a friend Noah that has cff and he will only live until around 16 so i am curious about my sister. We now get along pretty well and right now we are trying to get through the Series of unfortunate events books they are great well i would really like some info so plzzzz write back thankyou ... Racheal, 21 March 2006


Anonymous's picture

I have a 28 year old

I have a 28 year old daughter who has TS. I'm almost convinced that there is a behavior component that can accompany TS. I read an article probably 10 years ago that referenced increased behavior problems with girls with Turners. This was after my daughter turned 18 and left home for school. We dealt with what I would describe as chronic and severe behavior problems as she was growing up. She behaved OK in school and away from home, her problems were at home. She would carry on for hours screaming and being disobedient. I would beg her to stay in her room to give us space to calm down, but she refused to do so. Her behavior is not much different now. She is recovering from a critical accident and is again living with us as she rehabs. The old behaviors are returning. She still finds it difficult to moderate her behavior. We have daily crises over the simplest issues. I believe it may be emotional because things are a little harder for her, she has had to learn to adapt. However, because we are her parents, she is expecting that we make it easier for her. The best thing to do is not enable our TS daughters. My complete understanding are yours. You are not alone.

Anonymous's picture


I am finding it harder and harder to get an understanding of myself . I believe I don't because I have TS at 28. I feel their needs to be more resaerch done on woman with TS emotional stability . My family has nothing , but Denail So please just listen to your daughter she doe snot know .

Anonymous's picture

ts behavior problems

I am a mother of a ten year with ts and her behavior is out of control and it is alot of the issues over little incidents. We also send her to her room to calm down, I am trying very hard not to enable her, but at the same token I feel like I'm losing it. I just now am taking her to talk therapy, I will let you know if it helps. I understand fully of what you are going through.

Serendip Visitor's picture

just some insight from someone with ts

i dont mean to sound rude but there are no "behavior issues" related to turner syndrom,
im not saying she doesnt have them cause im sure u wouldnt be writeing if shes did but its not related to ts,u might wanna get her checked out and see what else is going on with her but its nothing related to ts

Mike Kwiatkowski's picture

about this subject

NO TS does not cause behaveral problems i have a friend with TS yes she is 25 now but she is sweet and kind and i have read up on this subject and talked to doctors on this. they all say the only thing TS causes is the short hight and late monthly cycles and in some cases they are slow at learning is all. it does not efect how they behave. the only thing that might cause that is her peers teasing her becuse of her apreance is all. i am sorry to tell ya this but NO turner's does not cause that. work with her some and she should mellow down.

Anonymous's picture

i guess it depends on the age

i guess it depends on the age of the person also. I have turners and when i was little i would act VERY immature. It gets better when you get older though, but there are some things socially i need to fix. but overall yeah it shouldnt affect behaviour.

Anonymous's picture

I believe it does cause

I believe it does cause behavirol problems I am 28 with ts and am very lost in this world ona social level

Anonymous's picture


My sister recently had an extensive ultrasound by an ultrasound clinic. They called her and informed her that the babies neck was 3 times larger than normal. Down sydrome was ruled out through blood work. How often does this lead to something like Turner's disease? They told her that it was a possiblity. My sister is 14 weeks pregnant and has another ultrasound scheduled in 5 weeks.

Anonymous's picture

Turner Syndrome is NOT a

Turner Syndrome is NOT a disease it is a diorder !!!

Serendip Visitor's picture


its not a disorder it is just a condition i am a 13 yr old girl with ts, i want marirage, a family when im older, i have learnt taht you have to be grateful with what you can acheiver or get as i probably wont have my own children and i probably wont get married but ts is not a disease, its not a disorder, it is C.O.N.D.I.T.I.O.N can everyone please remember that because it is quite upsetting when someone goes "sooo, what PROBLEM have you got" i say "ive got no problem thankyou very much but i have a condition called turners syndrome". TURNERS SYNDROME IS SOMETHING WE SHOULD BE PROUD OF.

Serendip Visitor danny's picture

i totally agree with u it is

i totally agree with u it is not a problem or a disorder it's just a condition I have a lovely and caring best friend who has turners syndrome and I love her for who she is