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
- blood hormone levels
- Kayotyping(type of blood test)
- MRI of the chest
- Ultrasound of reproductive organs/kidneys
- pelvic exam
Some complications that may occur as a result of Turner Syndrome are:
- heart defect
- middle ear infections
- kidney problems
- high blood pressure
- Hashimoto's Thyroiditis