Turner Syndrome And The Age Of Puberty

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

Trisomy 13 or 18 can be diagnosed before birth if developmental abnormalities are detected during routine prenatal screenings. The diagnosis can be confirmed by removing fluid from inside the womb (amniocentesis) and examining the genetic structure of fetal cells.

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

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

Turner syndrome affects the female reproductive. It causes early loss of ovarian functions. In nih.gov it says “The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissues degenerates before birth.” This makes girls infertile. Most girls with this syndrome don’t go through puberty but, you can take hormone therapy to go through puberty.

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.

1 in 150 babies is born with a chromosomal condition, otherwise known as a genetic condition because chromosomes hold genes that instruct the body on how to grow and function. These chromosomal conditions can be caused by an alteration in the number of chromosomes an embryo has. Each person has 23 pairs making 46 individual chromosomes, too many or too few chromosomes can result in abnormality. A condition resulting from this kind of alteration is Down syndrome, in which a pair of chromosomes contains one extra chromosome. Down syndrome, along with other conditions resulting from too many or too little chromosomes can result in mental retardation and physical defects. Chromosomal conditions can also be caused by a change in the structure of a chromosome. Parts of the chromosome can be missing, repeated, or rearranged in a way that can cause abnormality. An example of this condition is Fragile X syndrome, in which one segment of a gene is repeated 200 times as opposed to 5 to 40 times. These alterations of chromosomes can be inherited from the

A diagnosis of Turner syndrome is obtained through a karyotype test that is done on cells in the amniotic fluid before a person is born, this test is called amniocentesis, as well as on cells in a person’s blood after they are born. The chromosomes are counted and that is where abnormalities are found. Females usually have two, ‘X,’ chromosomes, with Turner syndrome;

I chose to research Turner Syndrome because it sounded very interesting. Turner syndrome is a condition that affects females only. Turner syndrome is the result of a missing, whole or partial, X chromosome. Turner syndrome can be diagnosed before birth but will occasionally not be diagnosed until the teen years. Diagnosis will depend upon symptom severity. Turner syndrome has symptoms for both those born before and after birth. Diagnosis is dependent upon finding symptoms when it comes to prenatal diagnosis. Abnormal fluid collection, abnormalities of the heart, and kidney abnormalities are all signs that doctors will look to when attempting to diagnosis the syndrome. Turner syndrome is a very physical syndrome. The signs and symptoms are physical and easily spotted in many if not most.

However, scientist were able to identified one gene called Short Stature Homeobox (SHOX) that is the ‘’important for bone development and growth’’ With the lost and alternation of one of the genes causes one of the most prominent symptoms which are short stature, skeletal abnormalities, developmental delays, nonverbal learning disabilities and possible behavioral problems. In most cause intellectual intelligence are not affected at all. Visible physical appearance are also affected. Female goes into condition such as webbed neck, low hairline at the back of the neck, lymphedema, or kidney problems. Because of the effect of Turner Syndrome with physical appearance, many girl may have problems with their body image and self esteem. About one third to one half of the individuals with turner syndrome are also born with heart defect. Doctors are able to diagnose turner syndrome by physical appearance such as short stature and blood sample and used for karyotype which helps identify the presence of cells to confirm the diagnosis. It may also be diagnosed during pregnancy with chorionic villus sampling or amniocentesis also by ultrasound that can identify physical symptoms before the baby is born. Chorionic Villus is a test that is given in early pregnancy to detect any congenital abnormalities in the fetus by taking small tissue sample from the villi or the chorion.

“Klinefelter syndrome is genetic because the newborn males are born with an extra “X” chromosome which makes it genetic. Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells.” If you didn’t know why it was a genetic disorder, now you

Every 1 in about 2,000 to 2,500 females born are afflicted. Turner syndrome is a non-inherited disease caused by abnormalities or lack of one of the X chromosomes. It can affect a female's height and reproductive system. First described in 1938 by Henry Turner, this disease has been known to plague women for years without a cure. Turner syndrome affects the way a female goes through puberty, her ability to have kids, and much more. The whole body is affected, but mainly the reproductive system, and there are two kinds that a female can have. Both have similar effects, but can they can differ in severity. These two types are classical Turner syndrome and Mosaic Turner syndrome.

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

Prognosis: Females with Turner syndrome will be shorter than the average female. While the most significant risk factor of Turner syndrome is heart and blood vessel problems. Many factors can affect a person’s prognosis, including: the cause of Turner syndrome, symptoms of Turner syndrome, and other medical conditions that occur (Genetic Science Learning Center, 2014).

The doctor might order a test for the baby to take just in case they can’t tell by the appearance. Amniocentesis is a test that takes the amniotic fluid around the the fetus and they withdraw it with a needle that is inserted into the mother’s uterus. This test will be performed in the second trimester after 15 weeks. The last type of test to determine if a child has Down Syndrome is Chorionic villus sampling (CVS) this is where the cells are taken from the placenta and it is used to analyze the fetal chromosomes. This ia a test that a pregnant woman would take between 10 to 13 weeks of pregnancy. When taking this test there is a low risk of a miscarriage.