Turner Syndrome

Turner syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in a woman. There are no known reasons for the complete or partial absence of one of the X chromosomes and the condition appears to occur randomly.

Turner syndrome is diagnosed using a blood test known as a karyotype. The karyotype blood test analyzes the chromosomal composition of the individual and determines whether the X chromosome is absent.

A shorter stature and lack of ovarian development are the most common characteristics. A woman with Turner syndrome may exhibit any of the following physical characteristics:

• A webbed neck – a variation of skin folds on the neck
• Arms that are slightly turned out at the elbow
• A low hairline in the rear of the head

A woman with Turner syndrome who receives proper medical care should be able to lead a full and productive life. However, individuals with Turner syndrome are more susceptible to heart problems, kidney problems, thyroid problems, or fertility problems.

There is no cure for Turner syndrome; however there are treatments that may reduce the symptoms. The two most common characteristics of Turner syndrome are short stature and lack of ovarian development, both of which can be treated.

The Food and Drug Administration has approved the use of growth hormones for the treatment of Turner syndrome patients. The growth hormone enhances growth velocity and potentially the final adult height. It is administered alone or with a low dose androgen.

Ovaries produce estrogen which is important for developing and maintaining good tissue and bone structure. Estrogen replacement therapy helps with this development along with promoting the development of secondary sexual characteristics.

There are also reproductive technologies available that may enable a woman with Turner syndrome to become pregnant. It is possible for a woman with Turner syndrome to carry an embryo provided by a donor egg.