Turner Syndrome And The Age Of Puberty

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.

One of the most common genetic birth defects is Down syndrome which is a congenital disorder caused from a chromosome defect. It causes impairments and physical abnormalities. This is a condition where a child is born with an extra copy of their 21st chromosome. According to the National Down Syndrome Society (NDSS), 1 in 700 babies are born with DS. There is not an exact cause of how DS happens but there is an explanation as to what happens. When there is any case of reproduction, genes from both parents are passed to the children. Within these genes there are chromosomes and the child is supposed to receive 23 pairs of chromosomes or 46 total. Children with DS end up with 3 copies or an extra partial copy of chromosome 21 instead of 2

Good reproductive health is a product of diet, exercise, hormonal balance, positive psychological health, as well as specialized medical care for women with Turner Syndrome. For example, diabetes, obesity, and thyroid disease all may interfere with ovulation and increase risk of miscarriage. These elements are even more important for women with Turner Syndrome, a majority of whom experience reproductive health issues. A majority of girls with TS do not spontaneously go through puberty and will experience premature ovarian failure, at which time hormone replacement therapy will become necessary. One of the most distressing reproductive health issues associated with Turner Syndrome is the decreased ability to become pregnant. This is the case for nearly every woman with Turner Syndrome due to premature ovarian failure. Only a fraction of women with TS are able to become pregnant spontaneously, yet due to certain classifications some women may have ovarian function. “Infertility is one of the hardest issues that TS women have to face”, says JoLynn Backes. She is a thirty-three year old woman that was diagnosed with Turner Syndrome when she was six. She is currently living in Poughkeepsie, NY with her husband. They were blessed with a baby boy through

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

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.

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

The purpose of this paper is to show that there are conditions, which are genetically specific, and Turner’s syndrome is one of those. Focusing our research on this topic, Turner’s syndrome, will allow us to gather a substantial amount of information. By researching this subject we will be able to get a better understanding of how it affects the body and who is affected by it. This paper will show how the understanding of Turner’s syndrome can lead to a happier healthy life for those who struggling with this condition. Looking deeper into how this syndrome affects women and why, will help women take preventative measures and will hopefully decrease the number of women who suffer both mentally and physically. The interest in preparing this paper comes from the need for further research to help with understanding what these women go through as they continue to grow. It will also guide us through the understanding of how this disease is

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;

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.

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.

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).

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.

“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

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.

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.