Turner Syndrome and Your Child

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Turner Syndrome and Your Child

Birth defects affect 3 % of live births annually in the United States and 1 in 33 children across the world 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 Turners syndrome occurs, it has no cure. Dealing with the symptoms of the condition is particular to each girl. Since cardio logical malformations are one of the biggest problems, heart failure is the most common cause of death of 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.

What is Turner Syndrome?

A genetic condition that only affects girls and discovered by Dr. Henry H. Turner, a pioneer endocrinologist, who first described the physical display of Turners disease in 1938. He presented his findings at the 1938 annual meeting of the e 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 pertaining to endocrinology, which is the study of physiology related to the endocrine glades and hormones.

Turner Syndrome is a chromosomal disorder that only affects females. It is the result of 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 indicate other abnormal fluid collections in the fetus. Heart abnormalities or abnormal kidneys may also be revealed 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
  • 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, Turners 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 objects to each other) or math.
  • Failure of sexual changes during puberty, which is due to ovarian failure that can occur at birth or during childhood, adolescence or young adult hood
  • 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 Turners Syndrome and classical and Mosaic Turner Syndromes are differentiated by the 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 that occurs in the X chromosome of some of the body’s cells.

Parsonage Turner Syndrome – Very rare, Parsonage Turner syndromes 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 that is up to 13 years shorter than those of their peers are. Many women have beaten the odds and lived long fruitful lives in spite of having Turner’s syndrome.

Dealing with the Challenges

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

No one can ever be prepared for the life changing impact that is 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 problems can be a determining factor in 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 pithy, strong willed woman on the screen has made her stand out among the crowd that is Hollywood.

Born in Morristown, New Jersey as Lydia Susanna Hunter, Linda began her career at a young age singing and acting, as 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. Here career includes competing at the Pan American Games in Indianapolis and was one of the chosen members of the bi-champion team. Additionally, as a member of the National team when competing in the Olympic Games in Seoul, South Korea, Melissa took fourth place. Her highest achievement is the World Champion Gymnast title.

Awareness

Often the complications that are brought on by Turner’s syndrome will cause a child’s life to terminate prior to birth. There are those, however, like Linda Hunt who grow into adult hood and competently compete in a world that gives them 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 who overcome any complications that they might have and grow to adult hood can be prepared to live rich and fulfilling lives.

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