What Is Turner Syndrome? What Are Its Symptoms And Treatment?

Turner syndrome is associated with several conditions in human females, with the absence of an entire sex chromosome, being the most common. A normal human female has 46 chromosomes, of which two are sex chromosomes, however in Turner syndrome, either a part or an entire sex chromosome may be missing.

A relatively rare variation of the condition called ‘Turner Mosaicism’ is characterized by absence of the chromosome only in some of the body cells (not all).

The prevalence of the condition is reported to be in the range of 1 per 2000-5000 phenotypic females.

Studies have shown that in most of the cases of turner syndrome, the deformed chromosome- X comes from the mother. Occasionally, the faulty chromosome may come from the father, when there are meiotic errors in the production of the X chromosome or abnormality in the Y chromosome.

Signs & Symptoms Of Turner Syndrome

Some of the signs and symptoms associated with Turner Syndrome include the following,

  • Physical appearance features like short stature, low set ears, webbed neck and low hair line, abnormal hip to waist ratio, swelling in the hands and feet and broad chest.
  • Other less apparent physical features include shield shaped thorax, small finger nails, shortened metacarpal IV.
  • Gonadal dysfunction or rudimentary ovaries may be associated with amenorrhea and sterility.
  • Organ deformities include Horseshoe shaped kidney, poor breast development, bicuspid aortic valve.
  • A host of other health concerns include congenital heart disease, diabetes, hypothyroidism and autoimmune disorders.
  • Poor cognitive and memory functions, hearing and visual defects are also common symptoms.

Other features of turner syndrome include micrognathia (or small lower jaw), cubitus valgus, palmar crease, drooping eyelids, pigmented moles and high arch palate. It should be noted that Turner syndrome manifests differently in different individuals and hence two females with the disorder may not share the same features.

Treatment For Turner Syndrome

Unfortunately, it is not clearly understood what causes the chromosomal abnormalities and hence it is difficult to prevent the occurrence of Turner Syndrome. Naturally, about 99 percent of all fetuses with turner syndrome have a spontaneous termination in the first trimester. Estimates suggest that over 10% of all spontaneous abortions in the United States are attributed to Turner Syndrome. However genetic testing techniques can be used including amniocentesis, in order to map the chromosomal profile before the child’s birth.

While there is no apparent linkage between Turner Syndrome and healthy lifestyle, it is recommended that to be parents should avoid smoking, consumption of alcohol, processed and refined foods, trans fats, etc and exercise regularly. This can help reduce the occurrence of Turner Syndrome in their children.

Significant advances in modern medicine now allow women with Turner Syndrome to lead relatively normal lives and help minimize some of the distressing symptoms associated with the condition,

  • Growth hormone therapy associated with a low dose of androgen can help improve height. While this treatment has been approved by the US FDA, the treatment is associated with several side-effects.
  • Estrogen replacement therapy is aimed at supplementing the body with estrogen (which it doesn’t produce naturally), which can help in development of secondary sexual characteristics. This can also help deal with a host of health concerns including cardiovascular disorders and osteoporosis.
  • There are host of reproductive techniques that can now help women with Turner Syndrome conceive and have children. Uterine maturity can also be achieved by using estrogen replacement therapy.

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