Turner Syndrome and Your Child

Discover more about Turner Syndrome or Turner's Syndrome and how it could affect you or a loved one

Turner Syndrome

Birth defects affect 3 % of live births annually in the United States, and 1 in 33 children  worldwide  will be born with a birth defect across the year. Congenital anomalies or birth defects can result in long-term disability, and the impact on the family, health care and society is affected by these anomalies at birth. The most common birth defects are  Down syndrome , neural tube defects and heart defects. However, there are other lesser-known congenital anomalies.

Even though Doctors understand how Turner’s syndrome occurs, it has no cure. Dealing with the symptoms of the condition is particular to each girl. Since cardiological malformations are one of the biggest problems, heart failure is the most common cause of death among girls with Turner’s syndrome.

Due to the nature of Turner’s syndrome, symptoms and problems can vary greatly from one girl to the next of those who have the condition.

Turner Syndrome and Your Child

What is Turner Syndrome?

A genetic condition that only affects girls and discovered by Dr. Henry H. Turner, a pioneering endocrinologist who first described the physical display of Turner’s disease in 1938. He presented his findings at the 1938 annual meeting of the Association for the Study of Internal Secretions. It affects 1 in 2500 women. Over his career, Dr. Turner wrote 30 papers and reviews concerning his studies about endocrinology, the study of physiology related to the endocrine glades and hormones.

Turner Syndrome is a chromosomal disorder  that only affects females. It results from the absence of a part of all of a second chromosome in some or all cells and occurs at or shortly after conception. The normal number of chromosomes is 46, two of which determine gender. Those with Turner’s syndrome are missing  one or part of the chromosome .

Turner Syndrome Symptoms

Symptoms  can appear before birth, at birth or in infancy. Signs and symptoms may vary with physical features, and poor growth is evident early in their development.

Pre-Birth –  A prenatal ultrasound may indicate large fluid collection on the back of the neck. It may also show other abnormal fluid collections in the fetus, which may reveal heart abnormalities or abnormal kidneys in an ultra-sound.

At Birth or Infancy Symptoms  – Indication of Turner’s syndrome at birth and during infancy may include:

  • a wide or webbed neck
  • small or receding lower jaw
  • the high, narrow roof of the mouth
  • delayed growth
  • slightly smaller than average body height at birth
  • swelling of hands and feet at birth
  • short fingers or toes
  • broad chest with wide-spaced nipples
  • arms that turn outward at the elbows
  • low hairline at the back of the head
  • low-set ears
  • narrow and upward turned fingernails and toenails

Effects on Older Girls, teens and Young Women –  With some girls, Turner’s Syndrome may not be readily apparent. Symptoms in this group may include:

  • Lack of a normal growth spurt that occurs at in normal development of girls
  • Short stature that is about eight inches less than expected for a female member of a family
  • Learning disabilities may also be prevalent, especially those that involve spatial concepts ( the relationship between objects and us and the relationship of things to each other ) or math.
  • Failure of sexual changes during puberty, which is due to an ovarian failure that can occur at birth or during childhood, adolescence or young adulthood
  • Early end of menstrual cycles which are not due to pregnancy
  • Stalled sexual development
  • Inability to conceive without fertility treatment is a symptom of most women who have Turner’s syndrome.
  • They find social situations to be difficult due to their inability to understand the reactions and emotions of others.

Types –  There is more than one type of Turner’s Syndrome and classical. Mosaic Turner Syndromes are differentiated by whether the chromosome is missing or if it has an abnormality.

Classical Turner Syndrome-  Results when the X chromosome is completely missing.

Mosaic Turner syndrome –  Is the result of an abnormality in the X chromosome of some of the body’s cells.

Parsonage-Turner Syndrome –  Very rare, Parsonage-Turner syndrome’s underlying cause is not fully understood. Different factors that include immunologic, environmental and  genetic ones  are thought to play a role in the disorder.

Turner Syndrome Life Expectancy

The most common cause of death in those with Turner syndrome caused from cardiovascular malformations. They are an important part of the increase in mortality rate that is three times higher than that of normally developed females, and those with Turner’s syndrome have a life expectancy of up to 13 years shorter than those of their peers are. Many women have beaten the odds and lived long, fruitful lives despite having Turner’s syndrome.

Dealing with the Challenges

As with most birth defects, complications of Turner’s syndrome can cause disability from heart disorders and the other prevalent issues with Turner’s syndrome. Dealing with these issues is not only hard on the one who suffers from the afflictions of Turner’s syndrome; the associated problems can also be a challenge for the child’s parents, both financially and psychologically.

No one can ever be prepared for the life-changing impact brought on by a child with a disability. Parents that are not informed of why these problems occur can be prone to blame each other. Education and support from others who have faced the same issues can determine your child’s psychological growth.

Linda Hunt Turner Syndrome

There are several  famous women with Turner syndrome . The most readily recognizable woman is  Linda Hunt , who played Henrietta Lange on NCIS: Los Angeles. Her film career has been long, and her portrayal of a concise, strong-willed woman on the screen has made her stand out among the Hollywood crowd.

Born in Morristown, New Jersey, as Lydia Susanna Hunter, Linda began her career at a young age singing and acting. Her mother was a music teacher who encouraged these activities. Debuting in 1980, in the film version of  Popeye  as Mrs. Oxhart, she went on to star in movies such as  Pocahontas , as Grandmother Willow, in  Dune  as Shordout Mapes, and in  Yours, Mine and Ours , she played Mrs. Munion.

One of her early appearances on the big screen was in  The Year of Living Dangerously , with Mel Gibson, where Linda won the best supporting role. The recipient of thirteen awards, Linda Hunt, at four feet nine inches tall, has not allowed Turner’s syndrome to keep her from pursuing her career with a passion. She has aspired to achieve, and her affliction has not inhibited her success.

Melissa Anne Marlowe, a former American Gymnast, also has Turner syndrome. Her career included competing at the Pan American Games in Indianapolis, and she was one of the chosen members of the bi-champion team. Additionally, as a National team member, Melissa took fourth place when competing in the Olympic Games in Seoul, South Korea. Her highest achievement is the World Champion Gymnast title.

Awareness

The complications brought on by Turner’s syndrome will often cause a child’s life to terminate before birth. However, there are those, like Linda Hunt, who grow into adulthood and competently compete in a world that gives them a little leeway for their perceived handicaps. Finding that your unborn child or infant is afflicted with an untreatable condition that will affect both them and you, possibly for the entirety of your lives, can be shocking to a family.

Finding  support groups  for you and your family at the first indication that your child has  Turner’s syndrome  can help everyone in the family adjust. The mind of those with Turner’s syndrome is not the problem, so girls who live to go to school and overcome any complications they might have and grow to adulthood can be prepared to live rich and fulfilling lives.