What is Turner Syndrome?
Turner Syndrome is a condition that usually affects only females. It happens when one of the chromosomes i.e. X which is also the sex chromosome is missing partially or completely. There can be tons of issues that can happen because of Turner syndrome. It can also lead to medical and developmental issues that include short height, defects in the heart, and ovary failure.
The usual time when Turner syndrome can be diagnosed is right before birth, early childhood, and during infancy. Women and girls going through turner syndrome need a lot of care for a number of specialists. There is a need for every day check-ups and care that will help the females to have an independent and healthy life.
Turner Syndrome Symptoms
There are different signs and symptoms of Turner syndrome in girls and women. In some of the girls, Turner syndrome’s present is apparent but for other girls, some of the features that include poor growth come up early.
Signs and symptoms of Turner syndrome can sometimes be subtle and sometimes, might develop over time. Also, they can sometimes be significant and can result in heart defects.
Turner Syndrome – During Birth
Usually, Turner syndrome is detected when the DNA is suspected prenatally. Babies with prenatal ultrasound of a baby that has turner syndrome can show up symptoms like:
Abnormal fluid collections over the neck areas
Turner Syndrome – During Infancy
Some of the signs of Turner syndrome during infancy include:
Short fingers and toes
Narrow fingernails and toenails that have turned upward.
Swelling in hands and feet
Turner Syndrome Causes
As mentioned already, Turner syndrome primarily happens because of abnormalities in the chromosome.
In general, a person has 46 chromosomes in total in every cell. Each cell is divided into 23 pairs and that also includes two sex chromosomes. So, the child inherits half chromosomes from the mother and half from the father. Genes are present in the chromosomes and that is exactly the one responsible to decide the character of an individual like their height, colour of the eyes, and so on. Typically, a girl has two chromosome – XX. But girls going through Turner syndrome have only one chromosome – X.
Turner syndrome doesn’t happen because of something that parents have done or not done. It is a total random error that takes place during the division of the cells when the reproductive cells of parents are in the forming stage.
Turner Syndrome Problems
Girls who suffer from Turner syndrome don’t really have any sort of ovarian development. Therefore, there is no chance for them to have sexual characteristics like the physical changes that are bound to happen when they hit puberty. However, on the other hand, thanks to technology that girls with this condition can come out of it with the help of in vitro and hormonal therapy.
Some of the health problems that come up because of Turner syndrome include problems in heart and kidney, obesity, diabetes, and blood pressure. Girls who suffer from Turner syndrome have a normal level of intelligence but few can even have problems in learning especially in maths. Hearing problems are also a cause of concern of girls with Turner Syndrome.
Turner Syndrome Diagnosis
Initially i.e. during a physical test, there is a chance that the doctor will look for physical traits of Turner Syndrome. However, they can vary widely because some girls going through TS have very few symptoms but the others have more.
Doctors have a special blood test that helps in inspecting the chromosomes i.e. a karyotype that helps in diagnosing Turner syndrome. According to the reports that show symptoms of Turner syndrome, show 45 chromosomes.
Turner Syndrome Treatment
Turner syndrome is a disorder that takes place because of chromosomes and so, there is no cure for the same as of now. But here are some of the treatments that might help.
1. Cardiac Surgery: To correct special defects in the heart, cardiac surgery can be done.
2. Growth Hormone: These hormones, either with other hormones or alone can help in improving the growth and will also help in increasing the height of the adult. One should start the treatment early to get the normal range.
3. Reproductive Technology: There are many reproductive technologies in the market that helps women to get pregnant who are going through turner syndrome. Fertilised donor eggs are generally used for creating embryos which are inserted directly into the uterus of a woman who is going through turner syndrome. With the help of this treatment, a woman can successfully carry a developing foetus.
4. Estrogen Replacement Therapy: Girls falling in the age group 12 to 13 years are generally given this therapy so that the development of the other sexual organs like menstrual periods and breasts are stimulated. Well, this therapy will not have any reverse infertility whatsoever.
Turner Syndrome Complications
Some of the complications that need to be considered are as follows:
Infection in the middle air: Girls who have Turner syndrome are likely to have more infections in the air and this happens usually because the ear tubes are narrower.
Hearing Problems: Women who have Turner syndrome are likely to have deafness that likely happens because of ear infections during childhood.
Kidneys: When an ultrasound is sound, there are abnormalities that come up in the kidneys. However, these differences don’t tell a lot about how well the kidneys work.
Hypertension: Adult women and teens are more prone to high blood pressure when they are going through turner syndrome.
“Enjoy your path to mom, Relish every moment”
Disclaimer: All content on this website, including medical opinion and other health-related information, should be considered as opinion only. Always seek the direct advice of your own doctor in connection with any questions or issues you may have regarding your own health or the health of others.