Turner syndrome is a rare female-only genetic disorder, affecting 1 in every 2,500 women. Women with Turner syndrome have one normal X chromosome and either a completely missing or partially missing second X chromosome.

There’s unfortunately no cure. However, with testing and treating the health conditions that can occur with Turner syndrome, women with Turner syndrome can expect a typical lifespan.

Turner syndrome is the result of a chromosomal abnormality, which happens entirely by chance.

Chromosomes store our genetic information, most people are born with 46 chromosomes, the 23rd pair of chromosomes, X and Y determine your sex. If you are assigned female at birth, you will have a pair of X chromosomes, whereas if you are assigned male at birth, you will have one X and one Y chromosome.

However, if you have Turner syndrome one of your X chromosomes is either completely or partially missing.

Turner syndrome is associated with certain symptoms and physical characteristics, but they can vary widely from woman to woman. Almost all women with Turner syndrome are shorter than average and have underdeveloped ovaries. Girls with Turner syndrome are therefore unlikely to start their monthly periods and undergo the other changes associated with puberty.

Girls with Turner syndrome are often identified when they fall behind on growth compared to others their age. On average, Turner syndrome is diagnosed around puberty when signs of delayed growth and sexual development become apparent. 

If your daughter has one or more symptoms listed above, it’s important you speak to a doctor. The only way to confirm a diagnosis of Turner syndrome is through a process called karyotyping. Karyotyping involves looking at all the chromosomes in detail by analysing a sample of blood. Once diagnosed, your doctor will likely order more tests.