Turner Syndrome Facts

Turner Syndrome is actually genetic condition, which occurs in approximately one out of every 2500 female children. For a female child the chromosome combination that is required is XX but in case of people who suffer from Turner Syndrome there is only one X chromosome, which is completely functional. The other X chromosome can be lacking in some functional cells or it is completely dysfunctional. The abnormalities that can occur as a result of Turner Syndrome are short stature and difficulties in reproduction. It is diagnosed in infancy but if it is a mild case then it is observed only after the child grows. Turner Syndrome is not fatal but researchers say that most of the babies who die due to miscarriages and stillbirths do have Turner Syndrome.

Facts about Turner syndrome

• Most of the people suffering from Turner Syndrome have a short stature. As a matter of fact girls who have Turner Syndrome only grow approximately 4 feet and 8 inches tall even after treatment.
• They have reproductive difficulties like they have only ovaries which are not capable of producing eggs neither do these ovaries secrete hormones that help in sexual development and growth of girls. Due to the malfunctioning of ovaries these girls also do not develop breasts and other feminine characteristics. They have irregular menstrual cycle or they never menstruate at all.
• It is really impossible for women suffering from Turner Syndrome to conceive children though it can be done with the help of proper treatment like hormone therapy and donor egg. Treatments do not make these people free from complications during pregnancy.
• The physical abnormalities might also include webbed neck, receding lower jaw, broad chest, flat feet, lazy eyes and low hairline.
• A gene called SHOX or short stature homeobox is associated with Turner Syndrome. This gene is placed on the sex chromosome and has a vital role to play in the determination of height and bone development of human beings. There are two copies of sex chromosome irrespective of the gender but if the female has Turner Syndrome she would have only one complete sex chromosome therefore the reason of incomplete development.
• Turner Syndrome is not a hereditary disease nether is it caused by environmental or health factors.
• Turner Syndrome can be diagnosed by taking a picture of the chromosomes at the first doubt, which is called Karyotyping or might also be observed by the doctor during the routine check ups in childhood.
• There are several complications that might occur due to Turner Syndrome like defects in the heart, kidney problems, and Hypothyroidism, which implies the inflammation of Thyroid glands. The patient can also suffer from Scoliosis due to which there is a curving of the spine. The patient can also suffer form ear infections, as the shape of her ears might be different from normal.
• There are various treatments like the use of several growth hormones that can be supplied to the body, which the body cannot generate, and Estrogen therapy, which again means a kind of hormonal treatment.
• There are various researches that are still in progress to find some treatment, which can also improve the behavioral symptoms of Turner Syndrome.