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What is Turner's Syndrome ?

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  Generally, a syndrome is a set of symptoms/features within a group of people that often occur together. In 1938, Dr. Henry Turner published a report that he had recognized a group of girls with many of the same characteristics.  These included arms angled away from the body, short stature, webbing of the neck, lack of sexual development, and a low hairline at the base of the neck. This is why we now call this Turner Syndrome. Some refer to it in the medical term of gonadal dysgenesis because one of the main features is abnormal development of the ovaries. There are other causes for this abnormal development as well.

In 1959, Dr. C.E. Ford discovered that the cause of TS is a chromosomal condition involving the sex chromosomes. This genetic disorder only affects females. All females with TS are missing all or part of their X chromosome. This can happen before or soon after the time of conception. There is nothing that either parent does to make this happen, the age, ethnicity, diet, or any other factors are completely unrelated to “causing” Turner Syndrome. About 50% of the females with TS are missing an X chromosome in every cell, while about 30% have some cells that are complete and some which are missing the entire X chromosome, this is called mosaicism.



 

Prenatal Diagnosis

1 out of 100 conceptions are Turner Syndrome. Yet only 1 out of 2,500 are born live. These girls are true miracles just being born. Turner Syndrome is the leading cause of miscarriage, yet professionals thus far, give little or vague information to expectant moms. This must be stopped. My OB called me to tell me to terminate, thankfully, I have this beautiful sixteen year old daughter. Many pregnancies with TS are currently terminated due to lack of information. Most of the information on google, wikpedia, and the internet will scare prospective moms terribly. The clinical spectrum of TS is much broader and often less severe than is described in many textbooks.

At diagnosis by amniocentesis, or TS may be suspected if a cystic hygroma is seen on an ultrasound. There are other factors that may be seen as well, coarctation of the aorta and/or left-sided cardiac defects, renal abnormalities, etc. These are by no means in every case.

Once the pregnancy has been determined to be TS, there are two major steps that need to be taken before the baby is born.


  • Prenatal counseling should always involve discussion of the vast variability of features, the likelihood of short stature and ovarian failure. It should be emphasized that these girls have very productive lives and most adults with TS indicate that struggling with their infertility is their greatest challenge.


  • Most important is to set up a geneticist and a pediatric cardiologist. If there are renal or ovarian abnormalities noted on sonogram, then you would add pediatric nephrologist and pediatric gynecologist.