Why Turner Syndrome?

By Aaron Kendall


Turner Syndrome is a condition that effects the chromosomes of females and which manifests as impaired ovarian function. Characteristic physical anomalies of Turner Syndrome include a webbed neck, swelling in the extremities, heart anomalies, kidney complications and a shortened malformed skeleton. Many of the anomalies associated with Turner Syndrome can be corrected with surgery and hormone therapy and, while woman with Turner Syndrome are distinctly unique, there is no reason they cannot enjoy a full life.

Outwardly, Turner Syndrome is characterized by distinct physical anomalies such as a webbed neck, swelling in hands and feet, heart irregularities, kidney complications, and a shortened and sometimes malformed skeleton.

A girl with Turner syndrome might exhibit normal growth until they are about four. At that time, they will tend to grow more slowly than their age group. The age of puberty is another milestone for women with Turner Syndrome. When most young women come of age they experience a dramatic growth spurt, but not women with Turner Syndrome. Because the ovaries fail to function or have greatly reduced function, a woman with Turner Syndrome will not have the necessary estrogen and progesterone in her body to stimulate menstruation and breast formation unless she receives hormone therapy.

Specifically, Turner Syndrome affects the X chromosome. Researchers continue to study which specific genes on the X chromosome are associated and have identified a particular gene that regulates bone development and growth. This gene, known as SHOX, is thought to cause smaller stature and bone abnormalities.

Such physical anomalies may include the characteristic webbed neck and a broad torso with widely space nipples. Later, the child might develop at a slower than average rate. And later still, at the time of expected puberty it does not occur. Also, a young woman with Turner Syndrome will not experience the typical growth spurt of a typical teenage girl.

In addition to the symptoms and characteristics mentioned above, women with Turner Syndrome may also have a low hairline, arms that turn out slightly at the elbows, heart irregularities, a tendency to develop high blood pressure, weaker vision, spinal deformity, an under active thyroid, an increased risk of diabetes as they age and weaker than normal bones. Many of these issues can be addressed through surgery and hormone replacement therapy.

Turner Syndrome if most often diagnosed at birth when the physical characteristics are first seen by medical staff. However, there is a blood test for Turner Syndrome and even an unborn child can be tested if needed.

A young woman with Turner Syndrome will face many challenges in her life. Unfortunately, the brunt of these challenges will come early and at a time when she is most emotionally and psychologically vulnerable. The popular notion of physical beauty will probably be beyond her reach. She will have to make a leap of maturity and foster the more powerful inner beauty of spirit. She may always feel different from her peers, but with loving support, hopefully she will come to accept her differences and see that being different doesn't mean she is less than anyone else.




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