The Turner Syndrome in Girls

The Turner Syndrome in Girls

  Autor NN Team Data: 06.08.2008

The Turner Syndrome in Girls
The Turner syndrome is a genetic disease which affects only girls and women. It is caused the partial or complete lack of a sex chromosome, leading to problems such as short height or reproduction difficulties. The Turner syndrome is most often diagnosed in the childhood, but in milder cases the signs might not appear till adulthood. The syndrome is considered very frequent. It affects one out of 2000 live newborns, although it is more frequent among the aborted fetuses or dead newborns. 

The disease is not a threat for the affected person, but it needs treatment for the entire life. Many sick women live active lives and they may have children if they take a proper treatment. 

Symptoms: 

The symptoms of the disease may be different, according to the severity degree. The most frequent symptoms are: 
Short statue. Girls with Turner syndrome have a shorter statue at birth, than healthy girls. The average is 47 cm, instead of 50.8 cm in healthy newborns. The patients have a short statue even in adulthood. If they don't follow any treatment, they don't develop normally at puberty. If they receive proper treatment, they may reach up to 142 cm as adults. 

Infertility and ovaries problems. The girls born with Turner syndrome have only rudimentary ovaries without ovules. Their ovaries don't produce female hormones which are necessary for their growth and for sexual development. In some cases, the ovaries look normal during childhood, but they stop functioning soon. 
As the ovaries are essential for the normal sexual development, many girls will never have breasts or other female characteristics. They will never have menstruation, or if they will, the menstruation will be irregular. The poor functioning of the ovaries may be replaced by a therapy with estrogen hormones. With this treatment, the patients will manage to have a quite normal statue (just a few cm less than other women), to have a normal menstruation and bone structure. 
There are little chances for a woman with Turner syndrome to have children without a fertility treatment. However, most of them can get pregnant as a result of hormonal treatments or with the help of an ovule from a donor. Still, although they get pregnant, there is a high risk for the child to have chromosomial abnormalities. 

Social and learning difficulties. The intelligence of girls with Turner syndrome is equal with that of healthy children, but they can have difficulties regarding the non-verbal concepts, such as mathematical orspace orientation.
In addition, the girls and the women with Turner syndrome may have specific physical features. Some of them may be observed since the birth, others may occur later. 
  • Too lazy eyes 
  • broad chest 
  • turned-in elbows (cubitus valgus) 
  • flat toes 
  • upturned nails 
  • swollen hands and toes, especially at birth. 
Causes 

Each of us have two sex chromosomes, one from each parent. These determine the biological sex. If you have two X chromosome, you are a woman, if you have one X chromosome and one Y chromosome, you are a man. The Turner syndrome occurs when a woman lacks the second X chromosome or when this shows abnormalities. The genes which are missing from that chromosome are responsible for the physical and hormonal features of the Turner syndrome. Nobody knows which the cause of the abnormalities of the second chromosome is. It is known only that they occur randomly The SHOX gene is the one responsible for the human height. It is situated on the sex chromosome, so each of us have two SHOX genes on the sex chromosomes, be it man or woman. As the girls with Turner syndrome have only one complete sex chromosome, they lack one SHOX gene, thus the short statue. 

Risk factors 

The mutation that leads to the total absence or to the abnormalities of the second X chromosome is spontaneous. Until now, nothing showed that the disease is inherited or that it is caused by other factors. There are little chances for the parents of children with Turner syndrome to have another child with this disease. 

Diagnose 

The Turner syndrome may be detected at any age, but most often this is diagnosed in the childhood. If you suspect that your daughter might suffer from this disease, the examination of the karyotype - a type of chromosomes photography. The disease can be detected also during a pediatric routine check, if the girl is short for her age or has other physical features of Turner syndrome. 

Complications 

As the Turner syndrome affects the normal development, there might occur other chronic disease in sick people. 
  • the heart diseases occur in a third of the total number of girls with Turner syndrome and include the narrowing of the aorta, high blood pressure. 
  • kidneys diseases which occur in a third of the sick persons. The kidneys disease are not very severe usually, but there might occur more frequent urinary infections than in healthy children. 
  • the hypothyroidism causes low level of the thyroid hormones, thus leading to blockages in the physical development. Fortunately, the hypothyroidism is easy to treat with medication. 
  • The scoliosis, which is an abnormally curved spine, might occur in adolescence but it is easy to treat and prevent. 
  • the ear infections are quite frequent in people with Turner syndrome, because the patients have a slightly different shape of the ears. 










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