What is Turners Syndrome?
Turner syndrome is caused by a defect of the second female sex chromosome. It’s known to be called the Missing X. A typical person has 26 Chromosomes and with TS, they are missing the whole or partial part of the X Chromosome. Turner syndrome (TS) affects approximately 1 out of every 2,000 girls in the US. You can be diagnosed with TS at any age. It doesn’t matter when you’re diagnosed, the test used to determine Turner syndrome is the same—a karyotype. A karyotype is a blood test that produces an image of your chromosomes. Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of seven girls who all had the same unusual developmental and physical features. There is no cure for TS, but human growth hormone and estrogen replacement therapy will help manage it.
Turner Syndrome Facts
- short stature and non-functioning ovaries which causes infertility
- some women may also have extra skin on the neck (webbed neck)
- puffiness or swelling (lymphedema) of the hands and feet
- skeletal abnormalities
- heart defects
- high blood pressure
- and kidney problems
- People with Turner syndrome are at a higher risk of developing other medical problems, including heart and kidney abnormalities, hypothyroidism, and ear infections