Beth's Home Page/ What is Turners
Turners Syndrome is a genetic condition that occurs in about one out of 2500 to 5000 live female births. It is characterized by short stature, delayed or arrested puberty, infertility, widely spaced nipples and a short or webbed neck. Other related health conditons may include heart abnormalities, frequent ear infections, kidney problems, diabetes, thyroid and parathyroid problems. They may sometimes have some problems with math, spacial perception, and/or sometimes non-verbal learning processes. This has nothing to do with intelligence and Turners individuals are certiainly not retarded. There have been far too many myths perpetuated about this. This idea may have originated because the syndrome was first identified from studies of the mentally incompetent in institutions.
Females normally have the two X chromosomes in the cells of their bodies. In Turners Syndrome one of the X chromosomes is either missing or damaged. Many people with Turners have a combination of both missing and damaged X chromosomes (a mosaic). It is my belief that the most devastating effects of Turners are the short stature and infertility. Most people can accept and live with the health problems, but, unless it is diagnosed at a very early age, there is only so much that the growth hormones can do for the height. Some individuals may respond better to the treatment with the growth hormones than others. Modern medicine has done much to help with the infertility problems. Unfortunately, for women with Turners, it is still experimental, difficult and expensive. Besides this, it raises ethical questions, because the egg must be supplied from another source.
In conclusion, with just a little extra help, medical monitoriing, guidance, and counseling, Turners girls and women can lead quite normal and productive lives. It is essential, however, that adult women with Turners continue close monitoring of their health. They are at increased risk for high blood pressure, high cholesterol, heart disease, diabetes, aortic aneurysms, thyroid, and parathyroid problems. With proper diet and regular excercise, as with anyone, most of these problems can be mitigated.