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TSSUS credits the information offered on our site to those that work to create knowledge about TS. All resources listed below are also listed under "Most Popular Resources".
Many references are made to the CLINICAL PRACTICE GUIDELINE; Care of Girls and Women with TS: A Guideline of the Turner Syndrome Study Group by Carolyn A. Bondy for the Turner Syndrome Consensus Study Group (National Institutes of Helath, National Institute of Child Health and Human Development.
Turner Syndrome: A Guide for Familes was written by Patricia Rieser, CFNP and Marsha Davenport, MD and the publication made possible by TSSUS through an educational grant from Eli Lilly and Company. Revisions planned for 2012.
Dr. Claus H. Gravholt edited a book available to all (online) Turner- know your body! An information book on TS. Thanks to Novo Nordisk for the educational grant to help make the book possible as well as to all those that contributed chapters.
Thanks for the many peer experts; those with TS as well as the parents and family members that contribute their experiences and insights so that those following in their footsteps will have more information available to them.
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Driving safely sounds simple but it's a very complex task. Brenda Bennett, CDI, CDRS and President of Transportation Solutions in Erie, PA contacted the Society in hopes of finding some secrets to helping women with TS learn to drive safely and pass the necessary driving tests. We realized that there are no simple solutions but we have started the process of finding resources that may be helpful. in Erie P
Before beginning the journey of driving have a complete vision test to rule out any spacial issues that may interfere with safe driving practices. Some people cannot drive because their eyes do not allow for the depth perception necessary for knowing how far away or fast other vehicles are going.
The ideas below are ways to prepare for learning to drive. It takes patience and practice but there are many things that parent's can do to prepare their young girls to adapt to driving more easily in the future. Here are some ideas:
ACTIVITIES TO IMPROVE VISION PERCEPTION AND ATTENTION/MULTI-TASKING SKILLS
- Word searches. Start by trying to find one word at a time, then two at once. Time yourself and try to find two words at the same time in less than 5 minutes!
- Hidden pictures.
- Big Brain Academy game for gaming systems.
- Traffic game (you have to get the red car out of the board)
- Bejeweled games on the computer.
- Lumosity.com website (you get 3 days free then there is a monthly fee).
- Eyecanlearn.com website is free and has a few fun perceptual activities.
- Play jacks.
- Play I-spy.
- Do difficult mazes.
- Play Jenga.
- Bean bag toss.
- Ball games that require timing.
- Play the passenger assisted activity game:
- When driving, identify up to 4 things at a time:
- First identify if anyone is behind you when the driver hits the brakes.
- Then while still doing that, tell the driver whenever you see a speed limit sign.
- Then while still doing the above 2, tell the driver when you see any stop signs as well.
- Then while still doing the above 3, tell the driver when you see any traffic lights too.
- When driving, identify up to 4 things at a time:
(You should be able to do all 4 at once easily….eventually!!)
More on driving...
The number one tool that women with TS depend on in their cars is a navigation system. Spatial abilities are related to directional sense which is key to driving safely and getting to and from where you want to go efficiently. Navigation systems are available for use in your car, apps for cell phones allow for free use, some watches and other devices have navigational abilities as well.
- Those with TS may appear stocky because they have relatively broad shoulders and pelvis
- May tend to have large hands and feet
- Infants with TS have an increased risk of congenital hip dislocation (which increases the risk of osteoarthritis in the hips of older women)
- About 10% of girls with TS develop scoliosis (curvature of the spine) during early childhood or adolescence. Scoliosis also may become apparent or worsen during growth spurts related to GH treatment. The pediatric endocrinologist will check for these conditions at regular clinic visits and refer to a specialist if needed
- small size of bones may lead to the underestimization of bone mineral density by dual-energy x-ray absorbtiometry
- proper estrogen treatement (ovarian hormone replacement) improves BMD and helps protect bones
- adequate calcium and vitamin D intake is essential
- weight bearing exercise is encouraged
- some agents for treating osteopenia in young women with TS are contraindicated in women who might attempt pregnancy
- It is recommended that all girls with TS see a pediatric dental specialist by the age of 2 years old
- It is recommended that all girls with TS visit an orthodontist no later than 7 years old
- Girls treated with growth hormone should receive periodic orthodontic follow-up.
- Specific recommendations are available in the Clinical Practice Guideline for TS.
Girls with TS may have the following issues with their teeth:
- crowded teeth because of their small and receding lower jaw and narrow, high-arched palate
- shallow root; placing them at risk for root resorption (“dissolving” roots)
- early eruption of secondary teeth
- thinner enamel
- less dentine
Hearing Because of the high rate of ear and hearing problems and the effect they can have on a person’s quality of life (including their speech),everyone with TS should have their hearing and middle ear function checked regularly throughout life. It also is important that girls and women with TS protect their hearing by avoiding loud noises and using ear protection in loud environments. Otitis media (ear infection) is extremely common in girls with TS 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.Ear infections and hearing loss are common in TS:
- In one study of girls with TS aged 4 to 15 years, 57% had some eardrum problem and 43% had hearing loss.
- Changes in the structure of the middle ear and eustachian tube (tube connecting the middle ear with the back of the throat) probably account for poor drainage and ventilation in the middle ear and easier movement of germs from the throat into the ear - all of which play a role in causing frequent middle ear infections (otitis media) and effusions (fluid in the middle ear), especially in early childhood.
- Middle ear effusions cause conductive hearing loss because sound does not move normally through an ear filled with fluid. Middle ear infections should be treated promptly with antibiotics.
- Placement of ear (tympanostomy) tubes should be considered if fluid in the middle ear has caused hearing loss for more than 3 months. Ear tubes drain fluid from the middle ear and restore hearing, decrease the number of ear infections and help prevent complications such as growth of tissue in the middle ear (cholesteotoma) and infection of the mastoid bone (mastoiditis).
- Swollen adenoids can block the eustachian tube, cause fluid buildup in the middle ear and cause trouble breathing, so they may need to be removed (adenoidectomy).
Another type of hearing loss – sensorineural hearing loss – also is common in TS.
- This type of hearing loss is related to the function of the inner ear, where the vibrations caused by sound waves are transformed to nerve impulses that travel to the brain.
- In the study mentioned above, 58% of the girls also had some sensorineural loss.
- This hearing loss may begin in childhood and appears to worsen over time, so that more than 90% of women with TS in their forties have some degree of hearing loss, with more than 25% of them needing hearing aids.
Hearing Aid SupportThanks to Karyn Janis, a zealous TSSUS volunteer, we have added Starkey Foundation’s, “Hear Now” program. Hear Now is a national non-profit program committed to assisting those permanently residing in the U.S. who are deaf or hard of hearing and have no other resources to acquire hearing aids. Please visit http://www.starkeyhearingfoundation.org/hear-now.php. You may also go to http://www.starkeyhearingfoundation.org/ to check your hearing online. EarsSometimes girls with TS are born with prominent or mis-shapen ears. There is no research directly related to the following article in regards to TS but it is an interesting new procedure for the ears. Ear Device Corrects Newborn Ear Deformities Without Surgery
Several eye conditions are more common in TS than in the general population. These include:
- strabismus; wandering or crossed eye (25-35% of those with TS)
- hyperopia; farsightedness (25-35% of those with TS)
- epicanthal folds; folds at the inner corner of the eyes
- amblyopia; “lazy eye” with decreased vision
- ptosis (droopy upper eyelid(s))
- red/green color blindness (8% of those with TS)
- congenital glaucoma (increased pressure inside the eye starting at birth)
Of these, strabismus is most common, affecting about one-third of girls with TS. It usually becomes evident between 6 months and 7 years of age. If not treated promptly with special glasses or surgery, decreased vision will occur in the wandering eye(s) in 30-50% of affected girls.
Girls with TS should have their eyes and vision checked by their primary doctor as part of each physical exam and by an ophthalmologist (eye specialist) at 12-18 months of age and then as needed .
This question does call to light the need for each individual to take responsibility for her own personal health. Every woman has a right to discuss the dosage and the type of estrogen/progestin treatment her doctor prescribes. Your health care professional should partner with you in helping find your optimal HRT treatment. Download a copy of the Clinical Practice Guidelines and share them with your physicians.
Most women with TS have ovarian failure. In other words, they do not have ovaries capable of producing female hormones and eggs. They need hormonal treatment in order to undergo pubertal development and to have menstrual periods. Their reproductive organs are otherwise normal and they are able to have normal sexual relations. Many options are available to TS women who wish to have children.
The most common fertility solution for TS women is adoption. The reproductive technology options include in-vitro fertilization with egg donation by a related or anonymous donor or donor embryo transfer. It is critical that a TS patient undergo a thorough physical evaluation (particularly cardiac and renal) before attempting pregnancy and seek advice from a high risk prenatal physician from the onset of pregnancy.
It's important to note that many women consider their "family" as an extension of relatives, nieces, nephews, and neighbors. Some women with TS, as other women in the United States are happy without having children. With the help of medical specialists and a good social support system, a woman with Turner syndrome has many choices that will enable her to live a happy, healthy life.
Genetically, TS is due to the absence of all or part of one sex chromosome, usually one X. This abnormality, also called monosomy X, is denoted medically as the 45,X (older literature used XO) karyotype, as opposed to the usual 46,XX female karyotype. Many, perhaps most, girls and women with TS are actually mosaic, meaning that they have cells with more than one karyotype. Often there is a mix of 46,XX and 45,X cells, and in this case the resulting clinical abnormalities tend to be milder than in 45,X TS. Mosaicism, especially 45,X/46,XX, is frequently detected by prenatal diagnosis (amnicentesis). Occasionally there is mosaicism for cells containing Y chromosome material - but not enough to cause male sexual features.
Girls with TS and Y chromosome mosaicism are at increased risk of developing a tumor of the gonads and should have their non-functioning ovaries removed.
Molecularly, most TS features result from having one rather than two copies of certain X chromosome genes. To date, one gene called SHOX has been clearly implicated in TS. Loss of one copy of SHOX is the main cause of short stature in TS. Identification of TS genes may lead to better treatments for short stature and other symptoms.
How is Turner syndrome diagnosed?
Diagnosis is made through a test called a karyotype, which is usually performed on cells in the amniotic fluid before birth and on cells in the blood after birth. A trained specialist counts the chromosomes in the white blood cells and looks for abnormalities. Females normally have two X chromosomes (46,XX) and males have one X and one Y (46,XY). Turner syndrome individuals are missing all or part of one of their sex chromosomes. About half of girls with Turner syndrome have only one X chromosome (45,X). Another third have two X chromosomes, but part of one X is missing. Other individuals with Turner syndrome have a mosaic pattern: some of their cells are missing an X chromosome (45,X), while other cells have different chromosome composition (such as 46,XX) Turner syndrome may be diagnosed throughout the life span, including adulthood, if signs are subtle.
Signs that indicate a karyotype is needed can include:
- Fetal abnormalities such as cystic hygroma (fluid around the neck), or incidentally when a routine amniocentesis is performed (e.g., for advanced maternal age)
- Webbed neck (excess skin) or lymphedema (swelling of hands and feet) in newborns
- Specific heart problems in infants
- Slow growth and/or short stature
- Delayed puberty or amenorrhea (lack of menstrual cycles)
- Infertility or menstrual irregularities
How reliable are the FISH and the Karyotype tests?
It's important to understand that even though the classic TS karyotype is 45,X (completely missing the second X chromosome in all cells studied, like me), there are a number of variations. Mosaicism is one of these variations, and it means that they saw cells with at least two different chromosome configurations. The fact that your daughter's starts with 46,X just means that they saw at least one cell line that had 46 chromosomes. From that point the karyotype report probably gets even more confusing, as it gets into a lot of shorthand that the labs use to communicate what they see.
FISH and karyotype are studies done very routinely at a lot of different labs, in a standardized way. The combination of the two tests confirm each other. A geneticist or genetic counselor can help interpret your daughter's specific results for you.
Growth in TS is decreased, and on average the girl with TS will grow to be 8 inches (20 cm) shorter than she would have been. This is because at least one of the genes that influences growth, the SHOX gene, located on the very ends of the short arms of the X chromosomes, is usually missing and accounts for much of this growth deficit. The growth decrease can be present at birth, with the infant being just bit smaller than average, and proceeds to become more obvious by two to three years and gradually more obvious thereafter. At the time of puberty, whether the girl has some of her own estrogen or takes it as replacement, the growth spurt is much less than average. Each of these phases adds up to the ~ 8 inch difference.
The growth of girls with TS not treated for their short stature has been studied sufficiently that TS-specific growth curves have been created and are available. Some bones grow even more slowly than others. The lower jaw bone may be quite small and contribute to orthodontic issues. The bones in the hands and wrist may be particularly affected, and some girls have small knuckles (due to short metacarpal bones). A few have bowing of the forearm and deformity of the wrist (Madelung deformity). There may also be changes in the knees which give a knocked-knee appearance, and in rare patients the hip(s) can be dislocated at birth or the top of the hip bone can slip off the long-bone during later years of growth (slipped capital femoral epiphysis). Finally the bones of the spine may grow in a curved fashion resulting in spinal curvature called scoliosis.
While girls with Turner syndrome do not lack pituitary growth hormone (GH), it has been shown in clinical studies that giving growth hormone can overcome some of the height deficit. The average height gain is about 4 inches (10 cm) or half of the deficit, with early institution of GH associated with greater growth and taller final height. GH is given by injection, and usually started in the preschool or early school years (unless diagnosis is delayed) since catch-up growth takes time. Once started, treatment usually continues so that growth can continue faster than if not treated, and isn’t stopped until final height is reached (growing end of bones fuse, called “fused epiphyses”) or the girl and her family are satisfied with height reached. The majority of TS girls will also need estrogen therapy, and its timing is somewhat related to how much growth deficit is remaining at the time feminization is desirable. Estrogen contributes much less to a growth spurt in girls with TS than it does in girls without TS. On the other hand, it is the hormone that is responsible for the bones fusing. Thus, pediatric endocrinologists, who generally supervise growth hormone treatment, balance the need for feminization with the inches that can still be achieved before the bones fuse. The earlier growth hormone is started, and the taller the girl is, the earlier in adolescence that estrogen can be started without a negative effect on final height.
About 30% of girls with TS are born with a problem affecting the structure of the heart.Although these conditions often are diagnosed at birth or in early childhood, all girls and women with TS, regardless of age, should have a thorough physical exam and an echocardiogram or MRI of the heart to look for heart conditions as soon as they are diagnosed with TS, during early adolescence (12-15 years old), and every three to five years during adulthood. The most common heart problems are a bicuspid aortic valve (the valve through which blood exits the heart into the aorta normally has three flaps, but in this case has only two) and coarctation (narrowing) of the aorta (the main artery leaving the heart). If any problems are found, the child should be followed by a pediatric cardiologist (children’s heart specialist) for ongoing care. In some cases, the problem may need to be corrected with surgery, and in others, the cardiologist may just follow the child carefully.High blood pressure (hypertension) is another common condition in TS. Sometimes it results from a heart or kidney problem, but sometimes there is no known cause. High blood pressure may not occur until later in childhood or adulthood and may get worse with obesity and age. Women with TS should have their blood pressure checked regularly and follow their doctor’s advice, which may include diet, exercise and medication.Another heart problem, aortic root dilatation (enlargement of the aorta where it leaves the heart, often associated with weakness of its walls), is uncommon, but can have a devastating result – the layers of the weak walls of this major artery can separate from each other (dissection) or burst (rupture). This can cause internal bleeding, shock and even death if not diagnosed and treated quickly. The risk is greatest during adolescence and adulthood, and this can occur even in women who do not have any history of heart problems or high blood pressure (although those factors increase the risk). All older girls and women with TS – and their families – must understand that severe chest pain, even if it doesn’t last long, can be a symptom of this extremely serious problem. They should go to an Emergency Department immediately and have an MRI done to rule out aortic dissection. This condition is rare, and there is no need to live in fear of its occurrence – just a need to be aware of it so it can be diagnosed accurately and treated quickly if it occurs.Ritter Rules -- are life-saving reminders to recognize, treat and prevent thoracic aortic dissection, a deadly tear in the large artery that carries blood away from the heart. Named for actor John Ritter, who died of a thoracic aortic dissection, Ritter Rules combine knowledge with action. Know the urgency, symptoms, who is most at-risk and which imaging tests are required to diagnose this medical emergency. http://johnritterfoundation.org/ritter-rules/
Between 10 and 30% of girls and women with TS develop hypothyroidism (low thyroid hormone), which usually is caused by autoimmune disease (the body reacts to its own thyroid cells as if they were foreign and tries to destroy them; sometimes called Hashimoto’s thyroiditis). The risk of hypothyroidism increases with age.The symptoms of hypothyroidism (which may include constipation, low energy, dry skin and weight gain) often are subtle, so thyroid function should be checked at diagnosis and every year or two after that throughout life. It can be diagnosed with a blood test and is easily treated with thyroid hormone.Girls with TS seem to have a higher than normal risk of other immune system problems, including celiac disease (gluten sensitivity), inflammatory bowel disease and juvenile rheumatoid arthritis. Girls with digestive complaints or joint problems should be seen promptly by their doctor, who may refer them to a specialist if needed. Treatment may involve diet changes (for the bowel conditions) and medication.Elevated liver enzyme concentrations are noted in up to 30% of women with TS; this usually is not related to any problems with liver function. In some women, it appears to be autoimmune, and in others, it is related to increased weight.
Between 25 and 40% of individuals with TS are born with a condition affecting their kidneys (the organs responsible for filtering blood and forming urine). In some, the kidneys are an unusual shape (horseshoe) or are in an unusual position, and in others, the internal structure of the kidneys is affected (double urine collecting system is most common). These conditions may not have any effect on the girl’s health, but they may increase her risk of urinary tract infections, high blood pressure or other kidney problems. For this reason, all girls with TS should have an ultrasound exam of their kidneys soon after they are diagnosed. If any unusual findings are present, they should be assessed and treated (if needed) by a pediatric nephrologist (children’s kidney specialist).
Lymphedema can be a bit complicated with some girls and women with TS. Please see the link below to understand what lymphedema is more completely. The Clinical Practice Guidelines for TS states that "The lymphedema seen at birth usually resolves by 2 yr of age without therapy. However, lymphedema may occur or reoccur at any age and may be associated with the initiation of sale-retaining therapies such as GH or estrogen. Some children and adolescents may require support stockings and elevation for treatment."There are no direct studies for lymphedema therapy (compressions and massage therapy) directly related to TS but some girls and women have found success in these treatments. Therapists suggest that the earlier the intervention, even infancy, is started the better the results. If shoes are not fitting at all or improperly, a consult with a lymphatic specialist may be beneficial. Additionally, there is a peer expert for lymphedema therapy as well as many other peer experts in other issues related to TS.
Girls and women with TS are at increased risk for a cluster of conditions sometimes called the “metabolic syndrome.” These include: high blood pressure; abnormal blood levels of lipids (such as cholesterol); non-insulin-dependent diabetes mellitus (NIDDM; also called Type II or late-onset diabetes); obesity; increased insulin secretion; and increased uric acid secretion (related to gout). Many of these conditions can lead to cardiovascular (heart and blood vessel) disease, so careful monitoring and prompt treatment of these problems (if they occur) throughout life is needed.Obesity is a common problem in TS, especially during adolescence and adulthood. Extra weight on a short person is very noticeable and can lead to teasing by others and a poor self-image for the girl.Obesity is associated with high blood pressure and NIDDM, and since a girl with TS is at increased risk for these problems to begin with, it is important for her to maintain a healthy weight.Diet and exercise are the keys to weight control in TS, as they are for everyone. Your child’s doctor or nurse can suggest a healthy diet and exercise program or make a referral to a dietitian for counseling. If you have a young daughter, help her develop good eating and exercise habits early in childhood – it’s much easier to stay lean than to lose weight.
Liver enzymes are commonly raised in women with TS, but their relationship to chronic liver disease is unknown. Estrogen treatment is not associated with adverse effects on the liver and usually lowers liver enzymes in TS and thus is not contraindicated in patients that have elevated liver enzymes. If elevated liver enzymes persist for more than 6-12 months, an ultrasound should be performed to rule out hepatic steatosis. It is important to discuss the Clinical Practice Guidelines for TS with your physician if you have elevated liver enzymes. Information above is taken directly from the Clinical Practice Guidelines for TS.
About half of people with Turner syndrome have large numbers of moles. Sometimes called nevi, these benign pigmented skin spots are like freckles, but darker, and sometimes raised above the skin surface. The number of moles sometimes increases during growth hormone treatment.Despite the higher quantity of moles, girls with Turner syndrome do not appear to be at increased risk for developing skin cancer. Even so, moles should be watched regularly for changes by the TS individual, and a dermatologist should check any moles that change in appearance or size, are irregularly shaped, or look suspicious for any reason. Sunscreen should be worn regularly to decrease the risk of skin cancerAbout half of people with Turner syndrome have large numbers of moles. Sometimes called nevi, these benign pigmented skin spots are like freckles, but darker, and sometimes raised above the skin surface. The number of moles sometimes increases during growth hormone treatment.Despite the higher quantity of moles, girls with Turner syndrome do not appear to be at increased risk for developing skin cancer. Even so, moles should be watched regularly for changes by the TS individual, and a dermatologist should check any moles that change in appearance or size, are irregularly shaped, or look suspicious for any reason. Sunscreen should be worn regularly to decrease the risk of skin cancer
Girls and women with Turner syndrome are at higher risk for developing celiac disease than the rest of the population.This disease occurs when the body develops a toxic reaction to gluten. Gluten can be found in all forms of wheat and related grains, including rye, barley and possibly oats. When people with celiac disease eat foods containing gluten, their immune system responds by attacking and damaging the villi. Villi, the fingerlike protrusions found on the small intestine, are needed for the body to absorb important nutrients.Celiac disease can affects people differently, and it can occur at different points in life. Some people develop symptoms as children, others as adults. Common symptoms include one or more of the following:· Recurring abdominal bloating and pain· Chronic diarrhea or chronic constipation· Weight loss not consistent with the amount of food consumed· Pale, foul-smelling stool· Unexplained anemia (low count of red blood cells)· Chronic gas· Poor growthDiagnosing celiac disease can be difficult. One method doctor’s use is to test blood for levels of antibodies to gluten. If that test and persistent symptoms suggest celiac disease, the physician may do a biopsy, removing a tiny piece of tissue from the small intestine to check for damage to the villi.Once diagnosed, the only known treatment for celiac disease is to avoid all foods that contain gluten. Following a gluten-free diet usually will stop symptoms, heal any intestinal damage, and prevent further damage. Improvements begin within days of starting the diet, and the small intestine is usually completely healed within 3 to 6 months.Women and girls with Turner syndrome who are experiencing symptoms of gluten intolerance should discuss the risk of celiac disease with their medical professionals.
Mosaicismis defined as "a condition in which tissues of genetically different types occur in the same organism". For individuals with Turner syndrome, it means that the second X chromosome is not entirely missing. In a person with mosaic Turner syndrome, some cells have the normal number of 46 chromosomes, but other cells are missing one X or there are structural defects in the second X.
Many different karyotypes fall under the category of "mosaic". Some of the most common mosaic karyotypes are 45,X/46,XX and 45,X/46,XY. Other variations include:
· Partial deletions: This occurs when part of the chromosome is missing.
· Isochromosomes: The centromere, or center part of the chromosome, is supposed to separate a short arm from a long arm. An isochromosome means that the two arms are of equal length and the information in each one is genetically identical.
· Ring chromosomes: This occurs when the chromosome breaks at each end, loses its end segments and curls around to form a ring shape.
While there is still some question as to how and when any form of Turner syndrome occurs, it is believed that mosaicism always occurs after fertilization, when the embryo has between 2 and 100 cells. At this point, many organ systems and other tissues are still forming, and some systems may have the normal karyotype, while others may adopt the new or "abnormal" karyotype, resulting in an individual with mosaic Turner syndrome.
People with Turner syndrome should be familiar with their karyotypes for a variety of reasons. Generally speaking, individuals with 45,X/46,XX mosaicism have fewer and less severe symptoms of TS compared to individuals with 45,X karyotypes. Unfortunately, it is impossible to know what percentage of 45,X and 46,XX cells there are in various organs such as the heart, brain or kidneys. So, for each individual, the severity of Turner syndrome characteristics is unpredictable. For those with karyotypes that include all or part of a Y chromosome, it is important to investigate the possibility of tumors that can develop in the ovaries.
Because the severity and frequency of TS features can vary from individual to individual, it is important to discuss your karyotype and its implications with a qualified physician.
When asked about mosaicism and its implications for those with TS, Dr. Andrew Zinn, Associate Professor of Internal Medicine at the University of Texas Southwestern Medical School and Chair of the Medical Advisory Board stated, "I really believe in diagnosing and treating the patient, and not the karyotype... the problems associated with TS should be treated no differently in women with mosaic versus non-mosaic karyotypes."
The Turner Syndrome Guide for Families reads, "Every girl with TS is unique and no generalization will apply to every girl, no matter how accurate it is for the group." With respect to mosaicism, this statement is a fact. While it is easy to rely on generalizations about Turner syndrome and mosaicism, the truth of the matter is that each person with Turner syndrome is different, and her physical characteristics will be as different from other people with TS as her fingerprints.
To be completed soon.