Chủ Nhật, 13 tháng 10, 2013

Turner Syndrome – Facts, Symptoms, Causes, Treatment, Prognosis, Life Expectancy, Pictures

Turner Syndrome – Facts, Symptoms, Causes, Treatment, Prognosis, Life Expectancy, Pictures

What is Turner Syndrome?


This is a disorder affecting only women or girls, which is the outcome from an incomplete or missing sex chromosome. Those with Turner syndrome may develop a variation of developmental as well as medical problems, such as failure to start puberty, heart defects, infertility, short stature as well as some learning disabilities.








This disorder is normally diagnosed during early childhood or infancy but a diagnosis can be delayed for teen-age females or those young females with symptoms and signs that are mild.


Almost all women and girls with this syndrome will need medical care ongoing from a vast assortment of specialists. Appropriate care as well as regular checkups may aid most individuals in leading a comparatively independent, healthy lives.


Turner Syndrome Facts


Turner syndrome touches approximately 60,000 females in the US. This syndrome is realized in about 1 out of every 2500 births with 800 new cases diagnosed every year.


The syndrome is named for Dr. Henry Turner who first issued a report which described this syndrome in 1938.


Turner Syndrome Symptoms


During infancy or at birth the symptoms and signs of Turner syndrome can vary greatly. In some, numerous physical traits and growth that is poor are obvious quite early. Symptoms and signs that might be obvious during infancy or at birth include:



  • Web-like or wide neck

  • Narrow, high roof or palate in the mouth

  • Small or receding lower jaw

  • Ears that are low set

  • Eyelids that droop

  • Hairline that is low in the back

  • Chest that is broad with nipples that are widely spaced

  • Hands that are short

  • Fingernails that turn upwards

  • Arms at the elbows turning outward

  • Feet and hands that swell specifically at birth

  • Growth that is delayed

  • Smaller average birth length


In girls who are older, or adolescents, the incidence of Turner syndrome may not be obvious. Symptoms and signs in these older adolescents that can point to Turner syndrome consist of:



  • No spurts of growth when expected in childhood

  • Disabilities with learning, especially with any learning that involves spatial concepts or math

  • Stature that is short with an average height in adulthood of about 8 inches shorter than average

  • Problems in social circumstances, for instance difficulties with understanding other people’s reactions or emotions

  • Failure of sexual changes to begin when expected

  • Stalled sexual development

  • Ending of menstrual cycles

  • Failure to conceive children without treatment for fertility


Some of the symptoms and signs of this syndrome are not explicit to this health problem. So it is vital to obtain a correct diagnosis promptly as well as the applicable medical management. See your physician if you think that your daughter has any symptoms of Turner syndrome or if you have any parental apprehensions about her sexual, behavioral or physical development.


Turner Syndrome Causes


Individuals when born have 2 sex chromosomes. For example, a baby boy will receive the chromosome X from the mother and chromosome Y from the father while a baby girl receives one chromosome X from respective parent. If that baby girl has this syndrome, 1 of the copies of chromosome X is either omitted or changed significantly. The alterations genetically of Turner syndrome will probably be one of those listed below:


Monosomy
When there is a total lack of chromosome X occurring due to an inaccuracy in the sperm of the father or the egg from the mother, the result is that every body cell will have only 1 X chromosome – condition referred to as monosomy.


Mosaicism
This occurs when an inaccuracy happens thru cell division in the earliest stages of the development of the fetus. The result is some cells having 2 whole copies of the X chromosome while other cells will only have 1 X chromosome copy or they will have 1 complete copy and 1 copy that is altered. This is a condition referred to as mosaicism.


Y chromosome material
In a very small number of Turner syndrome cases, there will be cells having only 1 X chromosome as well as other cells having 1 X chromosome and various Y chromosome material. With these individuals biologically development will be as females however the existence of the Y chromosome material can increase the hazard of the development of a type of cancer referred to as gonadoblastoma.


These altered or missing chromosomes X occurring in Turner syndrome creates errors during the development of the fetus and after birth other problems with development such as ovarian failure, learning problems as well as short stature.


This disorder may affect the correct development of many bodily systems. Numerous complications can happen and these include:
Cardiac problems
Some individuals with this syndrome at birth will have heart defects or small anomalies in the structure of the heart that intensifies the peril of serious difficulties. The primary blood vessel leaving the heart is the aorta and defects in the aorta increase the threat of a tear in the inner layer of the aorta. This is known as aortic dissection. When there is an imperfection of the valve between the heart and aorta there is a larger risk of aortic valve stenosis or narrowing of this valve.



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Cardiovascular disease
In females with this condition there can be an increased risk of high blood pressure as well as diabetes – both conditions increasing the chance of the development of blood vessel and heart diseases.


Loss of hearing
Loss of hearing is quite common in females with Turner syndrome. Occasionally, this is because of the slow loss of functioning auditory nerves. Very slight anomalies in the skull shape can also increase the frequency of infections in the middle ear as well as loss of hearing linked to the infections.


Problems with kidneys
Approximately 1/3 of females with this syndrome have various deformities of the kidneys. These defects usually do not cause any medical problems but they can increase the possibility of urinary tract infections as well as high blood pressure.


Disorders of the immune system
Individuals with Turner syndrome also have an enlarged risk of immune system problems, including one condition causing the thyroid to be underactive or hypothyroidism. This is a condition where there is low creation of hormones that control growth, metabolism as well as heart rate. There is also an increase of the development of Celiac disease which is an intolerance to wheat.


Dental
Abnormal or poor development of teeth can cause a large threat of tooth loss. Because of the shape of the mouth roof and the lower jaw, teeth can be crowded and there can be alignment that is poor.


Vision
Females with this syndrome have a greater chance of having weak control muscle movements as well as farsightedness.


Skeletal system
Difficulties with the development and growth of bones can increase the threat of curvature of the spine developing abnormalities as well as forward rounding of the upper back. Females with Turner syndrome are at a greater risk of having osteoporosis.


Problems with pregnancies
Females with this syndrome can become pregnant using fertility treatments. But most of these pregnancies will be high-risk as there is an increased in the development of aortic dissection, high blood pressure, as well as gestational diabetes.


Psychological problems
Females with this syndrome have a larger risk of depression, low self-esteem, difficulties in social situations, anxiety as well as hyperactivity/attention deficit disorder.


Turner Syndrome Treatment


The main treatments for almost all females include hormonal treatments:


Growth hormone
This therapy is suggested for females with this syndrome. The main aim of this therapy is to raise the height of the individual during childhood and adolescence. This therapy is normally given a number of times each week in measured, small injections of somatropin – known as Humatrope, Genotropin.


Estrogen therapy
Females also need to begin estrogen as well as related hormone therapy so as to start puberty as well as reach adult sexual development. Estrogen replacement therapy normally is continued thru out life until the female reaches menopause’s average age,


It is important to assist a daughter in getting ready for the transition from care given by the family doctor to her own primary care physician. This physician will remain to manage her care among several specialists thru out her adult life. In order to have substantial expansions in the length as well as the quality of life, regular checkups are important. Problems that can arise in females with this disorder include, hearing loss, diabetes, osteoporosis as well as high blood pressure.


Prognosis and Life Expectancy


In spite of the problems and physical difficulties that happen with Turner syndrome, individuals with appropriate medical care, intervention at an early age as well as ongoing support, can lead a very normal, productive and healthy life. The prognosis and life expectancy is the same as any normal individual facing health problems.









Turner Syndrome Pictures







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