Turner Syndrome Research Paper

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

The treatment depends on their specific symptoms. If an individual’s heart is affected, then they would be treated just like any other individual with a heart condition. If they have growing problems it is most likely due to the fact that they don’t have enough hormones. If that is the case, then the individual would be given growing hormones as a treatment. Early development disabilities are dealt with during therapy when the right equipment is present. If the individual had bleeding problems, then the treatment all depends on their

Starting at the time of the usual onset of puberty, testosterone replacement can help treat or prevent a number of problems. Testosterone may be given as an injection or with a gel or patch on the skin. The therapy allows a boy to undergo the body changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and penis size. It can also improve bone density and reduce the risk of fractures. It will not result in testicle enlargement or improve infertility. Breast tissue removal in males who develop enlarged breasts (gynecomastia), excess breast tissue can be removed by a plastic surgeon, leaving a more normal-looking chest. Speech and physical therapy treatments can help boys with Klinefelter syndrome overcome problems with speech, language and muscle weakness. Educational support is very important with boys who have Klinefelter syndrome. They usually have trouble learning and can benefit from extra assistance. Parents should talk to their child's teacher, school counselor or school nurse about what kind of support might help. Most men with Klinefelter syndrome are unable to father children, because no sperm are produced in the testicles. Some men with Klinefelter syndrome may have some minimal sperm production. One option that may benefit men with

Dear Patient, I'm sorry to inform you but your daughter has Achondroplasia, a growth condition your child has been born with. 1 out of 15,000 births in the United States experience this condition like your daughter ( National Institutes of Health. (n.d.). The reason this happen is actually unknown, the only way we can see this birth defect happiness is when either your husband's sperm or your egg was effected before she was born. ( Mayo Clinic Staff. (2016, April 03). the Symptoms are twisted elbows and feet, a abnormally long or short trunk, and the height under 4 feet 10 inches. ( Mayo Clinic Staff. (2016, April 03). The way we spotted this condition was when you had your ultrasound and found the fetus had shorten bones, we had a Amniocentesis test and it confirmed Achondroplasia. (March of Dimes. (April, 2013). Sadly Achondroplasia is not curable but to take some steps to improve your daughters health are hormone therapies to help increase bone growth or you can have surgery to add gaps in her bones to grow. (Mayo Clinic Staff. (2016, April 03). The best thing in my opinion as a professional is to treat her as a normal person and to help her in time of

ABNORMALITIES: The abnormalities regarding growth are- Prenatal onset of marked growth deficiency. Average birth weight at term is 1543g (1000 to 2005g) Mean postnatal growth is 1543 deficiency is -7.1 SD +/- 2.08. One adult was 104 cm. Delayed bone age. Genitalia showing Cryptorchidism. In Craniofacies abnormalities are: Microcephaly with secondary premature synostosis. In one-half of cases, head circumference is more retarded than height, while for the remainder it is as retarded as height. Receding forehead. Prominent nose, micrognathia, low- set malformed

Turner Syndrome is a sex chromosome disease caused by complete or partial monosomy which effects on average 1 in 2500 females (Porth, 2005). Doctor Henry Turner, an endocrinologist, discovered Turner Syndrome in 1938 (Hayden, 2013). This disease is believed to be responsible for up to 10% of spontaneous miscarriages, and many Turner Syndrome pregnancies are electively aborted (Hayden, 2013). Turner Syndrome only affects females; however, this disease can affect all ethnicities. Patients who have Turner Syndrome typically exhibit various signs, including short stature, lymphedema, low hair-line, and webbed neck. Women with Turner Syndrome typically have a narrow maxilla and a high-arched palate, and they may also have a bite abnormality.

In the medical world, there is a variety of genetic disorders that affect many people. One of which is Pituitary Dwarfism. Dwarfism is a rare genetic disorder that includes the underdevelopment of the body. Specifically, Pituitary Dwarfism is a rare form of Dwarfism that is caused by the absence of a functional anterior pituitary gland which is located in the brain. It does not release the growth hormone GHRH needed for proper development. Although this mutation does not affect many people, the patients that do carry this genetic disorder are greatly affected. The diagnosis of this disorder is a fairly simple process involving a blood test and an analysis of the patient’s growth compared to a person with normal alleles. These people have life-changing

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

All that really has to be done is changing the foods the children consume and the amount of sunlight that the children are exposed to daily. Usually mild bone defects will fix themselves, and will begin to grow properly. The affected child will still be reasonably shorter than the rest because they will not have grown nearly as fast as the other children.

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

In 1938, Dr. Henry Turner first described Turner Syndrome. Turner Syndrome a genetic disease that only affects girls, in fact, it is one of the most common sexual development disorders (Radtke et al. 2014). It is caused by an abnormal sex chromosome, either an abnormal X chromosome or a missing X chromosome. The sex chromosome contributed by the father to the child determines the sex of the child because the mother always contributes an X chromosome whereas the father can contribute either an X chromosome or a Y chromosome (Snustad 2012). Turner Syndrome is the result of an abnormal sex chromosome, so if the father’s sex chromosome is missing, then the child will only have a single X chromosome from the mother resulting in the child being

Turner syndrome is a lifelong chronic disorder; most females diagnosed with Turners Syndrome go on to live long and healthy lives, while others are susceptible to numerous chronic conditions. Health maintenance involves close medical management care, which includes screening for commonly correlating chronic diseases. Early prevention, diagnosis and treatment are also essential.

There are no legal or professional standards for this. By adhering to the parents’ request, the physician would be eliminating menstrual pain. The estrogen therapy would stop Ashley from growing taller. This would make Ashley more portable and will make it easier for the parents to take care of her. Also, because she can be moved more easily, she will be less likely to

During my research on Androgen Insensitivity Syndrome I found that patients feel that psychological support is one of the most important aspect of medical care not only for the patient but also for the parents. Parent will often need genetic counseling to better understand the condition and the risk of recurrence for future pregnancy. Children benefit from visits with a psychologist or psychiatrist to inform the child of the condition when the time is appropriate and also aiding the child in adjusting to the condition. Continued counseling should be provided as a support to the family.