• 21Mar

    By J. E. Davidson

    Turner Syndrome is a chromosomal condition first described by Dr. Henry Turner in the 1930′s.  It affects only females, and is characterized by short stature and the lack of normal sexual development at puberty.  Turner Syndrome (TS) affects one in 2,500 live female births and may account for up to 10% of all miscarriages.

    TS Is a Genetic Abnormality That Is Not Inherited

    The disorder occurs when the DNA is missing the second sex chromosome, or part of the second chromosome is missing.  Females carry two X chromosomes in their genetic information, and males carry XY chromosomes.  In Turner Syndrome, the female may have only one X chromosome; she may carry two X chromosomes with one only partially complete; or she may have a condition called mosaicism, in which some cells carry two X chromosomes while others carry only one.

    TS is not believed to be an inherited genetic condition, but rather a random error that occurs during the formation of either the eggs or sperm of the parents.  Since the male partner donates either an X or Y chromosome to the child’s DNA, and the mother always contributes an X chromosome, the abnormality may come from either parent.  The condition may be diagnosed in utero, after delivery, or during the teen or adult years when signs are subtle.  Since TS is a genetic abnormality, the quality of prenatal care does not affect the outcome.

    Signs and Symptoms of TS

    Female infants with this condition are shorter than average at birth, and may have fluid around the neck (cystic hygroma) and swelling of the hands and feet.  A broad chest with widely spaced nipples, or specific heart abnormalities may indicate the presence of Turner Syndrome at birth.

    The intelligence is usually not affected any more than in the general population, although the girl with TS may have difficulty with spatial-temporal processing (imaging objects in relation to one another), non-verbal memory and attention.  This may cause problems with their sense of direction, manual dexterity, and social skills.  They may struggle with math; however, their verbal and reading skills are often quite excellent.

    The girl may grow at a normal rate until about three years old, then growth slows and she  will not have the expected growth spurt at puberty.  The ovaries will not produce estrogen and develop eggs, and the girl will not begin having menstrual periods or develop breasts.

    Females with Turner Syndrome often exhibit other physical characteristics which are associated with TS, and which may vary in severity between individuals:

    - A webbed neck (extra folds of skin around the neck)

    - Facial features such as a narrow, high-arched palate, receding lower jaw; slightly drooping eyes, low-set ears, or low hairline

    - Scoliosis (curvature of the spine)

    - Strabismus (lazy eye)

    - Elbows that turn slightly out to the side, short fourth metacarpals (the ends of the bones that form the knuckles), flat feet, or small, narrow fingernails and toenails that turn up

    TS Is a Treatable Condition

    Growth hormone injections may be given during childhood to increase the final adult height, which is usually about 4’8″ in patients who have received the treatment.  Girls diagnosed with Turner Syndrome are usually placed on low-dose estrogen replacement therapy as they reach the age of puberty, usually around 12 years old.  Progesterone, and larger doses of estrogen, are given a little later to produce a monthly period, which is necessary to keep the womb healthy.  It is unusual for a woman with TS to conceive if she has not received estrogen during these years, but she may be able to have a family through embryo donation and implantation.

    Females with Turner Syndrome need regular medical check-ups, since they are at higher risk for other medical conditions, including ear infections, hearing loss, hypothyroidism, high blood pressure, and heart and kidney abnormalities.  Women diagnosed with TS should receive estrogen therapy until they reach the age of menopause to avoid osteoporosis.

    Female infants who are who are diagnosed with TS should receive quality medical care from a pediatric endocrinologist (a specialist in childhood conditions of hormones and metabolism).  Early diagnosis, intervention and treatment will allow girls with TS to grow into a woman who can lead a happy, normal life.

    This article is for information only, and not meant to use as a diagnosis, or to replace the advice of your physician.

    Posted by Article Poster @ 8:00 am

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14 Responses

  • sharon Says:

    heey i have turner syndrome and i can lie with it
    so dont be a girl that finks i am differd dont oke and do not look at other girls that have a normal grow and weight


  • admin Says:

    Hi Sharon!
    It’s OK – you aren’t different! Please feel free to write us if you have something to add to this article.

  • laura Says:


    i have recently found out i am carring a child with Turner syndrome and been told i only have 2 percent chance of Not miscarring. i want to know what a life girls have with turner syndrome is it a good one or do you wish you could do more and be like everyone else.

    i have been advised to terminate to prevent a steel birth but feel that she is a fighter and im ment to look after her as her mum not let her down. please help

    thanks laura x

  • Martin Says:

    Hello, laura!
    Sorry for the late answer, hope it’s not too late. If the girl with Turner syndrome and her parents obtain good medical and psychological care, the chances for a satisfying, happy and healthy life are excellent. Even some of adult women with Turner syndrome can have a baby (but only few of them). But still it should be your decision whether to give birth to your child or not.

  • Carina Says:

    Hello, I am a student from the UK and I am making a report on Turner Syndrome.

    I would like to ask if there is any research into finding a cure for Turner Syndrome. I am aware it would be highly difficult as it is a chromosomal abnormality and i have looked at whether there is any research going into these abnormalities but cannot find anything?

  • Martin Says:

    Hello, Carina.
    As a chromosomal condition, there is no cure for Turner syndrome. But there are several methods to minimize the symptoms.

    - Growth hormone treatment can improve growth and influence a girl’s final adult height. In fact, in many cases, the treatment can help many girls with Turner syndrome reach a final height in the average range, especially if treatment is started early enough in childhood.
    - Another treatment for Turner syndrome is estrogen replacement, which helps the girl develop the physical changes of puberty, including breast development and menstrual periods. This treatment is often started when a girl reaches about age 12 or 13.
    - And a technique called in vitro fertilization can make it possible for some women with Turner syndrome to become pregnant. A donor egg can be used to create an embryo, which is then put into the uterus (womb) of the woman with Turner syndrome. With proper supportive care, the woman can carry the pregnancy to term and deliver a baby through the normal birth process.

  • garry Says:

    what are the causes of turner syndrome??

    and is there any possibility that turner syndrome would vanished?? for instance, operational!!

  • Martin Says:

    Turner Syndrome is a chromosome anomaly and can’t be vanished operationally. Turner Syndrome is a result of absence one of two X chromosomes (monosomy X).

  • garry Says:

    how about if their parents is drug addiction??
    there is possibility that their child will having a turner syndrome??
    in addition, what are the learning difficulties of the child if she has a turner syndrome? what are the best strategies would help the child to learn?

  • Cathy Says:

    I had 3 mc’s and one birth .
    I had a mc in 1/2006 and conceived in 7/2007.
    That mc in 2006 was caused by Turners Syndrome.
    Do I need to have my 3 yr old girl tested now for TS?
    I had a total of 3 MC’s – 2nd MC happen in 9/2009 which they weren’t able to get enough tissue to exam. The third MC happen in 8/2010 my report hasn’t come back yet.

  • Martin Says:

    Hello Cathy,
    If you have any misgivings about your daughter, you should test her. But generally the fact you had MC due to TS doesn’t mean itself that your further MCs were caused by TS; also it doesn’t mean that your girl has TS.

  • Chromosome Disorders Says:

    Turner syndrome is a condition that affects approximately 1 in 200 females. It does not affect men. Turner syndrome occurs when both of the X chromosomes normally found in women are missing. Chromosomes are the deoxyribonucleic acid strands found in every cell in the body. The X chromosomes may be completely missing or only partially present, in Turner syndrome.

  • she Says:

    i am in my 13th week of my pregnacy and in ultrasound it has been diagnosed that the baby in my womb have cystic hygroma,cystic kidneys,bilateral swelling and edema around the whole body and CVS (cerebro villus sample )has been collected for genetic testing.and 1or 2 days i am going for termination.but can anyone tell me how much is the posibillity of this turner syndrome to occur TS in my next pregancy and how it is related to me how much i am responsible for it.plz some one with great knowledge and experience or doing research reply.
    i really want a true and serious reply. and wish it should not happen with anyone
    god bless everyone

  • Martin Says:

    No research has been done on this problem. So no one can tell you how great is the risk of occurence of TS in your next pregnancy. So you just should try again and believe that everything will be alright.