Turner Syndrome Research Papers

Most people with WS are happy as they are outgoing and extremely social. People with WS need to be closely monitored for their heart, because heart problems are quite common in this syndrome. SVAS or supravalvular aortic stenosis, is the narrowing of blood vessels and the Aorta. This may cause heart failure, breathing problems, and chest pain. And surprisingly, only 1 in 10,000 people get this syndrome. But with all the upsides and helpable things, this disorder is negative as it could kill if not treated. Many symptoms if not treated can be fatal. Symptoms include Scoliosis (a curved spine), abnormally small head, ADD (Attention Deficit Disorder), farsightedness, sunken chest, development delays, and trouble gaining weight as a baby.

Congenital heart disease is a cardiovascular condition resulting from an abnormality in the structure of the heart. The exact time this defect forms is unknown but it is during the fetal development in the womb. Researchers think the defect could be case partially by genetics and medical conditions of the fetus and the parents. If the baby’s mother had rubella, while pregnant or other conditions such as diabetes could have caused the defect. Some medications that were taken by a pregnant mother could also have caused birth defects. An error on chromosome 22 could also have caused the heart defect. Some symptoms that a person may have a congenital heart may not show up until later in life but many children also have the symptoms. Symptoms of a congenital heart defect are abnormal heartbeat, bluish tint to skin, shortness of breath, dizziness or fainting, and swelling of body tissues and organs.

Turner syndrome results in a monosomie of chromosome X and is the only viable monosomie known. One in every 5,000 newborns can inherit this disease. The mental abilities are not affected, although they are usually sterile owing to underdeveloped sex

Most of the girls that have Turner Syndrome are way shorter than average girls. The girls often have their normal height up to three years old. After they are three the growth rate starts to slow down. Ovaries that are non-functioning are other symptoms of Turner Syndrome. A girl’s ovaries begin to produce sex hormones at puberty. This doesn’t happen with most girls who have Turner Syndrome. Most don’t start their periods or develop breast

Stevens – Johnson syndrome (SJS) is a severe immune response-mediated hypersensitivity reaction to particular drugs or infections that causes rashes, sloughing of the skin, and the disruption of mucous membranes. This condition may affect abdomen, back, breasts, feet, gastrointestinal system, genitals, hands, head, immune system, knees, legs, lungs, neck, nose, reproductive system, respiratory system, urinary system and eyes.

Discovered in 1938 by Dr. Henry Turner, Turner’s Syndrome is where a female is born with either a x-chromosome missing, or the chromosome being altered in some way. Signs a girl has this disorder can include: puffy feet and hands at birth, short stature, low growth hormone levels, and a delay in puberty. Turner’s is rare, as it occurs in about one in every 2000 births. I was that one birth. Pediatric Endocrinologist Nancy Wright is the one who diagnosed me with it on October 11, 2014. The day was a fall day, with the crunchy leaves on the sidewalk and the doorway. That day was also a little cold. Not too cold, but not burning hot either. The ride took about an hour from my home state of Georgia, to Dr. Wright’s office in Tallahassee, Florida.

Bullying is a topic everyone can relate to. A person with Turner Syndrome can be seen as an easy target for bullying. I struggled to recognize social cues making me an easy target. Between the ages 10-14 I use to have two neighbors that would tease me about being awkward and being a "cat lady". I always thought they were just joking around like friends normally do. Now I know they were doing this to be cruel. Taking advantage of how generous and naive I was they would only hangout with me when they were bored. They would use my phone to text our other neighbor that was only there in the summer, swim in my pool and play with the things I had in my room. My phone had unlimited texting and my pool was bigger than the one they had so they took

Turner Syndrome is a genetic disorder that effects a girl’s development. Girls who have it are short, and most are infertile. Girls and women that have turner syndrome are at a risk for many health problems, including high blood pressure, kidney problems and diabetes. There is no cure. But treatment can help reduce symptoms as you read in the text below. This information stated below will explain health issues of turner syndrome. It will also cover symptoms and causes of this disease as well as diagnosis and treatment options.

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of

Turner syndrome is a common chromosomal abnormality, occurring in approximately 1 in 2000 live-born female infants. it results when an X chromosome is missing or partially missing. Turner syndrome can cause medico-developmental problems, including short stature, failure to start puberty, infertility, heart defects, thyroid problems, certain learning disabilities and social adjustment problems. About 10-30% of cases develop hypothyroidism. This is often associated with thyroid enlargement.

Congenital Heart Defects (CHDs) include all structural anomalies of the heart and the intrathoracic great vessels resulting from the errors in morphogenesis, during development. The incidence of CHDs among live births is estimated to be 3.7 to 7.7 per 1000 (Ferencz et al. 1985). CHDs are etiologically heterogenous and it could be due to genetic (single gene defects, chromosomal abnormality) and or environmental (multifactorial, teratogens) or unknown factors (Michels and Ricardi 1990). From literature, it is seen, that 6 percent of CHDs are due to chromosomal abnormality (Greenwood et al. 1975). Conversely, the reported incidence of CHDs among individuals with chromosomal abnormality is around 30 percent.

Turner Syndrome is only found in females. This syndrome is caused by the absence of an X chromosome or the nondisjunction of the X chromosome. This is a chromosomal disorder meaning “an abnormal condition due to something unusual in an individual's chromosomes.” Turner Syndrome is due to a chromosome mutation rather than a gene mutation. The missing X chromosome affects the development of the female. Usually Turner Syndrome is not inherited from the parent and “occurs as a random event during the formation of reproductive cells in the affected person's parent.” Sometimes the egg loses a sex chromosome as a result to nondisjunction and in this case resulting in Turner Syndrome. As you can tell you cannot necessarily predict if your child is going to have Turner Syndrome because it is random. Fortunately, it is rare that Turner Syndrome is passed from one generation to the next generation.

Whereas benign hereditary chorea affects males and females equally. However, the female sex can be said to have a significant influence on both spectrum of disorders given the role maternal thyroid function contributes to the developing fetus. Brown (2012) noted that maternal thyroxin (T4) significantly impact and prevents neurological damage to infants. Man( 1971) noted that maternal hypothyroidism significantly impars the pyshocmotor development and Haddow et al (1999) pointed to a decline of four points in IQ being noted in children age 7 to 9 year, with a direct finding of maternal hypothyroidism at 17 weeks gestation. Allan-Herndon-Dudley Syndrome presents typically during birth or early infancy, suggesting thyroid abnormalities are usually detectable early in life, whereas dysmorphic features and in particular neurological symptoms evolve over time. (Kurian & Jungbluth, 2014). Brown (2012) stated that thyroglobulin (Tg) being detected as early as 10 to 12 weeks gestation and that thyroxin (T4), triiodothyronine (T3) and thyroid stimulating hormone (TSH) can be detected in fetal serum. Brown (2012) went on to note that this fraction of thyroid hormone occurring in placental transfer could be driving the level detected. This information is significant given the fact that infants are unable to synthesize T4. The maternal half-life of T4 dissipates over a

Turner syndrome development in females and most do not undergo puberty and most are unable to conceive. One-third to one-half are born with a heart defect or abnormalities, and early loss of ovarian function.

The results indicate that their baby is a female with Turner Syndrome. This condition is caused by a missing X chromosome and results in short stature, ovarian failure, and medical problems involving the heart, thyroid glands, and kidneys. Some of these conditions can be treated and managed with great success. The question that arises after diagnoses