Monday, November 28, 2011

Turner Syndrome

Turner Syndrome can be defined as a chromosomal condition. It alters development in females.
We all know that humans have 46 chromosomes. There are two chromosomes (our sex chromosomes) that determine whether or not we become a boy or girl. Females are known to have two X chromosomes whole males have one X and one Y.
People who have Turner syndrome are missing all or part of their X chromosome. This is only found in females and in most cases they only have one X chromosome. If a person with this syndrome has both X chromosomes (XX) one will be incomplete. It is unknown which gene on the X chromosome that is responsible for most of the signs/symptoms of Turner Syndrome. This syndrome occurs in 1 in 2,000 live births. It is more common among those pregnancies that end in miscarriage or stillbirth.
If a baby survives birth a few symptoms they may encounter would be:
  • swollen hands/feet
  • a wide/webbed neck (extra skin on neck)
  • absence of puberty:small breasts/little to no pubic hair
  • shield shaped chest; broad/flat
  • drooping/ dry eyes
  • infertility (due to absence of ovarian function)
  • no menstruation cycle
  • short in height
  • painful intercourse due to dry vaginal area
This syndrome can be detected at any stage in life. If a chromosome analysis is done during prenatal testing this syndrome can be diagnosed before birth. During a physical exam doctors look for signs of underdevelopment. Other testing that can be done are:
There is no cure for Turner Syndrome itself but there are things to help fix the symptoms. One with this can take growth hormone to grow taller; estrogen replacement therapy can be done to trigger the growth of breasts, pubic hair, and other sexual characteristics. It is said that for the first three years of a female with this syndrome they are of normal height. They don't hit puberty so they don't hit their growth spurt.

Some complications that may occur as a result of Turner Syndrome are:
Many of those who are diagnosed with Turner Syndrome don't survive birth. The select few who actually do are unfortunately stuck with this syndrome for the rest of their lives due to a lack of a cure. This is not a hereditary syndrome. It occurs when one of the two X chromosomes is either missing or is incomplete. There is not exact cause for it but it is said to be a result of an error during the formation of either the eggs or sperm.


1 comment:

  1. This is a very sad article to read about. it is very disturbing that there is no cure with all of our medical break though. We can have operation to determine sex and everything else but we cannot control this.