Turner syndrome is a genetic condition characterized by presence of just one X chromosome. This condition is found in 1 of every 2.500 baby girls and instead of two X chromosomes (XX, which is normal), these girls have one functional X chromosome, while the other X is missing or is completely dysfunctional.
Genetic Basis of Turner Syndrome
Scientists found out that the gene known as short stature homeobox (or SHOX) is actually responsible for Turner syndrome. This gene determines the height and development of bones in humans. SHOX is located on the sex chromosome (the X chromosome) and since there is a lack or dysfunction of another X chromosome these women experience different problems and incomplete development of bones.
Turner syndrome is not considered to be caused by any environmental factor or some disorders or diseases. Also, this syndrome is not hereditary condition and can’t be passed onto the children.
Physical Appearance
Usually, Turner syndrome is diagnosed in babies, but if it’s really mild case, this condition may be diagnosed sometime during childhood. Some scientists claim that babies who died because of miscarriages and stillbirths had Turner syndrome.
Abnormalities in genes seen in Turner syndrome are known to cause short stature and different problems with reproduction. Shot stature is present in most people suffering from this syndrome and even after the treatment they don’t grow much more. Girls treated for this problem usually grow just some 4 feet and 8 inches (about 142cm). Apart from short stature, patients diagnosed with Turner syndrome may also have webbed neck, receding lower jar, lazy eyes, low hairline, broad chest and flat feet.
Ovaries of women with Turner syndrome can’t produce eggs or secrete sexual hormones, responsible for sexual development. Because of these problems, these women don’t develop breast tissue or any other female sexual characteristics and their menstrual cycles are either irregular or don’t even exist. As the consequence, woman with Turner syndrome can’t conceive naturally without hormone therapy and donor egg. Even after these treatments, pregnancy may still be very complicated.Complications and Treatment
Turner syndrome may cause different health problems, such as heart and kidney disorders and under-activity of the thyroid gland (hypothyroidism), as well as scoliosis. Other possible medical problems for these patients may be ear infections, especially due to the abnormal shape of their ears.Treatment is usually based on the use of growth hormones and female sexual hormone (estrogen), which is something the body of this patient is unable to produce on its own.
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