What is Turner Syndrome?
Turner Syndrome (TS) is a chromosomal condition affecting approximately 1 in 2,000 females. It is usually confirmed by an examination of the chromosomes from a blood sample (karyotype). A chromosome is a string of genes present in every cell in the body. Normally, each cell has twenty-three pairs of chromosomes, making a total of forty-six chromosomes. One of these pairs, the sex chromosomes, determines the gender of the foetus (46XY for a boy and 46XX for a girl). In Turner Syndrome there will usually be an X chromosome or portion of one missing in all or some of the cells.
The main consequences of TS are:
* short stature (average height 143cm)
* lack of secondary sexual characteristics (failure to develop at puberty)
* infertility.
There may be other medical problems related to TS such as eye, ear, heart, kidney and thyroid. Sometimes there are other physical features such as low set ears, low hairline, webbed neck, pigmented moles, bending out of the elbows and puffy hands and feet.
The intellect of TS girls and women is the same as the range of that in the normal population. Some TS individuals may have spatial skill and psycho-social problems, and need some extra help to overcome these.
It is recommended that females with TS receive ongoing medical care from an Endocrinologist, Pediatrician or Gynecologist, or a TS Clinic who have experience with TS.
Taking Care of Ourselves
Our Newsletter features many medical issues that affect those with Turner Syndrome. Being responsible for our own medical management can make a big difference in our quality of life. Be aware of your ongoing care by regular visits to your Specialist/s – and make a list of what you need to check on. Check out our Chatterbox page for contacts and discussions on various areas of TS. When we share with others we are not only helping, but we also know that we are not alone.
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02.12.2007 
