Genetic Diseases


Turner Syndrome

One of the rarest disorders, Turner Syndrome or TS as it is also known affects only females all around the world. The malady is known to affect only about 1 girl in every 2500 girls all around the world. The condition is also recognized in medical circuits all around the world by the term Gonadal Dysgenesis and denotes a special physiological condition in which the patient’s chromosome lacks one or all the chromosomes that are a natural part of the human body.

History of the Turner Syndrome

The disease has been named after Dr. Henry Turner, an endocrinologist from Oklahoma, who studied the condition extensively and was one of the first researchers to describe as early as in the year 1930, the features as well as the developments which are today described to be symptoms of the Turner Syndrome. There were, however, at the same time several physicists in Europe who were also carrying out extensive researches on the subjects. Thus, the malady, Turner Syndrome is also often referred to by some other names which are meant to honor the European doctors. The other names of the disease include:

  • Ullrich-Turner Syndrome
  • Bonnevie-Ullrich-Turner Syndrome

The first patient to be diagnosed with the Turner Syndrome was in the year 1959, by a team of doctors who were led by Dr. Charles Ford in the city of Harwell in Oxfordshire. The case recorded was that of a fourteen year old who was diagnosed with symptoms applicable to Turner Syndrome.

What is the Turner Syndrome?

The Turner Syndrome is basically a malady in which one of several parts of the female X chromosome remains absent in the human body. A female human body generally contains forty six chromosomes, of which two are Sex Chromosomes. In cases where Turner Syndrome is observed, these two X chromosomes are completely or partially absent.

There is also a condition which can be said to be a derivative of the Turner Syndrome in which the X chromosome remains missing in some cells of the body of the patient but present in some others. Such a condition is known as Mosaicism or Turner Mosaicism. Through studies are yet to reveal the reason or the exact cause behind Turner Syndrome, yet studies are still on to reveal the exact reasons behind the disease.

What are the symptoms of the Turner Syndrome?

There are some easily distinguishable symptoms which are associated with the Turner Syndrome. Though these by themselves may not easily mark out the patient to the physician, yet their total appearance can suggest the malady to the doctor. Perhaps the most prominent symptom which is associated with the malady is the trait of the patient to have an extremely short stature. Other symptoms can include swelling of the feet and arms as well as a low hairline and low spaced ears. There are a number of other external symptoms as well which are associated with the Turner Syndrome. These include:

  • Small fingernails
  • Horseshoe shaped kidney
  • Ear infections
  • Loss of hearing
  • Increased weight
  • Absence of a menstrual cycle
  • Sterility of the reproductive organs.

How is Turner Syndrome Diagnosed?

Once suspected, there can be several tests that will be conducted on the patient’s body to ascertain the presence of the Turner Syndrome. There are some typical stages in a girl’s life which may lead to the detection of the malady. The first stage is during birth, when the infant girl can be diagnosed and found to be affected by Turner Syndrome. On the other hand is the bridge of puberty, when again, the physicians can notice certain malfunctions of the normal bodily functions and reveal the presence of the disease.

A special blood test is required to determine the presence of the turner Syndrome, which is known as Karyotype. The test is usually a method which determines the number of Chromosomes in the patient’s body and also analyzes the kinds of chromosomes that the body possesses. Once the Karyotype Test provides evidence of the presence of the Turner Syndrome in the patient’s body, the doctor generally recommends a few other tests, which are needed to be carried out. These include tests which can determine the conditions of the kidneys, liver, heart, and hearing faculties to determine and rule out the various problems that are associated with the malady of Turner Syndrome.

Turner Syndrome Treatment

Though research and studies are still on to allow doctors to come up with a method for treating patients suffering from Turner Syndrome, yet as of today there is no specific treatment which can be applied for the illness, since the root of the problem lies in the basic chromosome stricture of the patient. However, individual treatments are meted out to provide relief from some of the external as well as the some of the internal problems which the patient faces.

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