What Is Turner Syndrome?

Give Me an “X”…Give Me Another “X”…Give Me a Little of a “Y”

Turner syndrome is a genetic disorder from an extra “x” chromosome, a missing “x” chromosome, or partially formed “y” chromosome in a female’s genetic makeup. It is commonly diagnosed in infancy, but mild cases may not be diagnosed until puberty or later. Most people diagnosed with this syndrome will lead an ordinary life but will require constant health monitoring and care. Someone with this chromosome disorder may have an increased risk of other health issues. Severe cases may require more treatment and may interfere with independent living.

Common Factor in Everything in all Living Organisms

Everything living has cells and inside those cells there are chromosomes that contain the DNA that makes each living thing distinctive. When there are chromosomes missing, partially formed, or there are extra ones it can cause various symptoms and features that are unique to the chromosome combination.

Each parent contributes a squad member, the “x” chromosome, to a baby girl. If one of the team members is missing or incomplete, it results in Turner syndrome. These are three types:

  • Monosoym - one “x” chromosome
  • Mosaicism - some cells have two sets of “x” chromosomes, some cells have one set, and other cells have only one
  • Y chromosome material - some cells have one “x” chromosome and other cells have some “y” chromosome material

Females that have this syndrome will have characteristics and health issues that are common to the chromosome combination that they have.

Identifying and Diagnosing Turner Syndrome

The severity of Turner syndrome can vary from barely noticeable like the cheerleader that sits on the bench to characteristics that take center field and cause health issues. To diagnose this syndrome, it will be necessary to do DNA testing. These are some of the symptoms of Turner syndrome:

  • Neck that is exceptionally wide or has a neck that appears web-like
  • Ears sit lower than average
  • The back of the head that has a low hairline
  • Eyelids that are droopy in appearance
  • Widely spaced nipples on a broad chest
  • Toes and fingers that are short and may have upturned nails
  • Swelling of hands and feet that are most noticeable at birth

Some of the symptoms that may appear as a female matures include the following:

  • Sexual development that stands still
  • Menstruation ends early
  • Learning disabilities and social disabilities
  • Growth spurts don’t occur and shorter than average height

More information and support on living with these symptoms can be found on the Mayo Clinic website and the Turner Syndrome Society website.

Complications of Turner Syndrome

Mild cases of Turner Syndrome may not have any noticeable symptoms or characteristics. Severe cases will have many, and there are risks of other health complications like the following:

  • Halo Nevus – depigmented skin around a skin lesion like a mole that doesn’t commonly require any treatment if there are no signs of melanoma (skin cancer)
  • Heart Problems - defects in the heart, valves, or aorta
  • Hearing Loss - occurs from infections that are more frequent due to the skull shape
  • Immune disorders - diabetes, under-active thyroid, or wheat intolerance
  • Pregnancy complications - blood pressure, gestational diabetes, and aortic dissection

Careful monitoring and medical testing can prevent symptoms and complications from becoming serious health issues, which will increase the quality of life for people with that syndrome.

When there are extra members on a cheerleading squad, or there are members missing it can interfere with the routine being done the way it was choreographed. With a little preparation, creativity, and some flexibility the routine can still be done and a team cheered on to victory. Females with Turner syndrome can have happy, productive, and independent lives with the right support.

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