Turner Syndrome: Discovery and Treatment

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Introduction

Turner Syndrome, also known as UIIrich Turner Syndrome is a medical condition that affects females. The exact cause of Turner Syndrome is unknown but researches have shown that the condition results from a chromosomal abnormality. There is no cure for Turner syndrome, however, there are many treatments that help to correct problems associated with this medical condition. Turner Syndrome affects 1 girl in every 2500 girls across all races.

Discovery of Turner Syndrome

Turner Syndrome was discovered by Doctor Henry Turner, an endocrinologist at the time-based in Oklahoma, United States, back in 1938. First published reports on the condition were first done in 1959 by Charles Ford and his colleagues at Guy’s Hospital, London when a 14-year-old girl was found with signs of Turner Syndrome.

Chromosomes Affected

Turner Syndrome is a condition resulting from chromosomal deformity or abnormality. Usually, a female infant is born with two X chromosomes, but a female with Turner Syndrome is born with one X chromosome and in other cases, the two X chromosomes are present but some parts of one chromosome are missing.

Diagnosis of Turner Syndrome

Turner Syndrome is diagnosed at birth or at the onset of puberty. During pregnancies, abnormal ultra-sounding resulting from defective heart and kidney may be signs of Turner Syndrome. A blood test known as Karyotype is used to analyze the composition of chromosomes and it is the most reliable method of diagnosing Turner syndrome.

Doctors are also able to diagnose Turner Syndrome from physical examination of a female with this condition; physical features of a person with Turner Syndrome include:

  • Short Stature
  • Low hairline
  • Abnormal bone development
  • Amenorrhea (Absence of menstruation)
  • Skin webbing
  • Breast formation failure

A girl with Turner Syndrome is likely to suffer from other related health problems like; Diabetes mellitus, thyroid, heart and Kidney abnormalities, hearing problems, obesity and arthritis.

Treatment of Turner Syndrome

Turner Syndrome is a chromosomal disorder and as such, there is no cure. However, early treatment by the use of growth hormones helps in increase the height of a girl to normal height. In girls between the age of 13 and 14, Estrogen therapy helps to stimulate the development of sexual organs like the breast and sexual process like the menstrual period. Cardiac surgery is also used in the treatment of Turner Syndrome to correct heart deformity.

Conclusion

Turner syndrome is a chromosomal abnormality affecting one girl in every 2500. This medical condition leads to physical and mental abnormalities with increased chances of getting other related problems like heart and kidney failure, obesity, arthritis, etc. there is no treatment for Turner syndrome although there are many treatments used in correcting problems resulting from the disorder.

Reference

Johannes Nielsen, Hans Gottlieb (1977) Turner Syndrome: A psychiatric-Psychological Study, Dahl Publishers, Mumbai.

Richard A. Lippa. 2005. Gender, Nature and Nature, Routledge Publishers, United States.

The basics of Turner Syndrome, 2008. Web.

Turner Syndrome, 2008, Web.

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