Turner's Syndrome

Christina Santini

Turner syndrome only affects only girls and women and results when a sex chromosome is missing or partially missing.

Symptoms

  • Short stature
  • Delayed growth
  • Loss of ovarian function
  • Don't undergo puberty
  • Wide neck
  • Extra folds of skin on the neck
  • Low hairline at the back of the neck
  • Puffiness or swelling of the hands or feet
  • Skeletal abnormalities
  • Kidney problems
  • Heart defect
  • Difficulty in social situations
  • For most women with Turner syndrome, inability to conceive a child without fertility treatment

How is it Inherited?

Turner Syndrome is not a gene that is inherited from your parents. Females have two X chromosomes typically. With turners syndrome, they are missing one of the chromosomes or, rarely, they have two chromosomes but one is structurally altered.

This occurs due to a random event during reproductive cell division. While the cell is dividing, the chromosomes do not separate properly causing the irregular number of chromosomes.


Mosaic Turner syndrome occurs when there is an error during early fetal cell division and a mutation occurs. While the fetus is being created by the dividing of cells, some of the cells have two normal X chromosomes and other cells only have one.


Rarely a partial deletion of one X chromosome occurs. One X chromosome is then missing some of its genetic make up.

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Treatments

Primary treatments involve hormone therapies.

  • Growth Hormones: These aim to increase the girls height as much as possible at appropriate times during their childhood and teen years.
  • Estrogen Therapy: Most girls need to start taking estrogen in order to begin puberty and achieve adult sexual development. Taking estrogen is then continued throughout their life until the average age when menopause occurs.


Other treatments are then given according to that person's symptoms and complications.


Adult care is then needed later in life where they need to constantly moderate their health. They should follow up with a heart specialist to make sure their heart stays healthy. They should also have regular check ups with their doctor. This has shown an improvement in quality of life with those who have Turner's Syndrome.

Help?

The Turner Syndrome Society of the United States and other organizations provide resources about the syndrome for families. It also has information about many support groups. These groups can be for the parents and others for young girls. It can help parents exchange ideas and coping mechanisms and locate resources to maintain a healthy life. Young girls will be able to connect with others undergoing the same difficulties and they will be given help on how to act in different social situations.

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Genetic Tests

Turner's Syndrome is not inherited from the parents, so the tests need to be on the fetus or growing daughter. As a parent, you should choose to go through prenatal testing. This way you have the ability to prepare for your daughter's future health care if they have Turner's syndrome.


Prenatal Tests:

  • Evaluate the baby's DNA through the mother's blood
  • Chorionic villus sampling- removing a small piece of tissue from the placenta
  • Amniocentesis- tests the amniotic fluid

These analyze the baby's DNA and chromosomes to see if a mutation occurred in the development of the fetus.


Doing the testing before there birth is beneficial because you are able to obtain the knowledge necessary to help your daughter throughout her life. Those with Turner's syndrome live a healthy and happy lifestyle, but they just need to be aware of the possible health complications that may occur. This testing allows for you to learn about the future hormonal treatments for your daughter and health monitoring. This way you obtain the extra knowledge of how to help your daughter prepare for her healthy life with the syndrome.