Turner’s Effect on the Body
Not only does Turner’s affect the physical appearance of a woman, but it also affects many different internal factors. Turner’s affects height, puberty/reproduction, different organs, Diabetes, and Cognitive Function.
The short stature of someone with Turner’s syndrome is caused by the loss of one copy of the SHOX gene that is found on the X-chromosome in women. This gene is the gene that is incredibly important for long bone growth in the body. The missing SHOX gene could also account for a few other distinct features associated with the disease, such as the short fingers and toes and the irregular rotation of the wrist and elbow joints. The linear growth of the woman is mitigated while she is still in the uterus of her mother. Her physical growth will lag throughout her childhood and adolescence, leading to a short stature. The average height of someone with Turner’s Syndrome is 143 to 145 centimeters, which is about four feet and eight inches tall.
Osteoporosis is when the bones are fragile and weak, and leads to a loss of height, curvature of the spine, and increased bone fractions. Similarly to height, this caused by the lack of estrogen that is being circulated throughout the body. There are other factors that can play into osteoporosis. The most common is bone structure defects that can occur. Scientists are also postulating that the bone strength could be related to the loss of an unknown X-chromosome gene; however this is a hypothesis that needs to be more thoroughly tested before an answer can be published. Osteoporosis can be prevented or maintained through estrogen treatments to help circulate the hormone through the body.
Most women with Turner’s will experience the loss of her ovarian functions during her early childhood and will not enter menses normally. Some women have breast development and menstruation during their early teenage years, but both will cease in the later teenage years. A few women actually develop normally until ovarian functions cease around the early twenties. There have been a few documented, natural pregnancies, but they are not common. Most of them do not have healthy oocytes to allow fertilization to occur. With current technology, it is possible for a woman with Turner’s to have a baby through donated oocytes. It is possible, but dangerous because of the maternal complication risks, such as Diabetes, high blood pressure, and aortic dissection, that can occur with the technology induced pregnancy. The problems with puberty and reproduction are caused by the fact that their bodies do not have adequate amounts of estrogen to carry out menses and development.
5 to 10% of children with Turner’s Syndrome suffer from the coarctation of the aorta, or severe constriction of the major blood vessel that exits from the heart. Another 30% have bicuspid aortic valves, or the aorta of the heart has only 2 components instead of the normal 3 to the valve regulating blood control. Many Turner’s patients also have high blood pressure, which could possibly be caused by kidney abnormality, aortic constriction, or because of no known reason. All three of these problems can be found by using different types of medical tests and medical imaging studies.
One third of women with Turner’s Syndrome is affected by kidney malformations. Urinary infections, such as a Urinary Tract Infection, are the most common form of problem with the kidney for women with Turner’s. They suffer more frequently from urinary infections than do women without Turner’s.
One third of Turner’s Syndrome patients have a thyroid disorder, with the most common being hypothyroidism. Thyroid disorders are most commonly caused by the immune system attacking the thyroid glands, which is called Hashimoto’s Thyroiditis. The symptoms of a thyroid disorder are:
- Decreased energy/lethargy
- Dry skin
- Poor growth
Type Two Diabetes, or adult onset diabetes, has an incredibly high occurrence rate among Turner’s patients. Someone with Turner’s is twice more likely to develop diabetes than an average citizen in the general population. It is unknown why the risk of Diabetes is so incredibly high, but it has been observed that there is an insufficient Insulin release in response to glucose in the body. It can be controlled, but not cured, by monitoring blood-sugar levels, a healthy diet, regular exercise, regular doctor visits, and medication.
Women with Turner’s Syndrome have normal learning levels. However, they have difficulty with specific visual-spatial coordinating tasks, such as visualizing a three dimensional picture or imagining a graph of a parabola. They also struggle when it comes to learning math. Turner Neurocognitive Phenotype is the word that describes the struggle with math and visual-spatial coordination. This is due to the loss of the X-chromosome genes that are necessary for certain aspects of the nervous system development.