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Turner Syndrome Facts

Turner Syndrome Facts

Turner syndrome occurs in approximately one out of every 2000 female children. It is a chromosomal disorder caused by a missing or incomplete X chromosome. This article illustrates some interesting facts about this condition.
Poushali Ganguly
Last Updated: Jun 3, 2018
For a female child the chromosome combination that is required is XX, but in case of females who are affected by 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 this condition 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. The condition is not fatal; however, researchers say that most of the babies who die due to miscarriages and stillbirths are affected by it.
Facts
  • Females with this syndrome have a short stature. As a matter of fact, girls who have this condition 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. Also, these ovaries cannot secrete hormones that help in sexual development and growth of the 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 nearly impossible for affected women 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 women 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. It 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 this condition, she would have only one complete sex chromosome, and therefore the reason of incomplete development.
  • This disorder is neither a hereditary disease nor it is caused by environmental or health factors.
  • It 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 checkups 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. Ear infections may be experienced since the shape of the patient's 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 this syndrome.
DisclaimerThis article is for informative purposes only, and should not be used as a replacement for expert medical advice.