Something that only affects females, Turner syndrome is a genetic condition that is caused by an abnormal chromosome. It only affects around 1 in 2,000 girls.
Typically, a baby girl is born with two X chromosomes (XX). A female that has Turner syndrome has part – or a complete, X chromosome missing. Males have XY chromosomes, with the Y determining the male sex.
Turner syndrome is usually described as either classic Turner syndrome – which is where one of the X chromosomes is completely missing – or mosaic Turner syndrome – where one X chromosome is generally complete but the other is partially missing or abnormal in some way.
What are the symptoms of Turner Syndrome?
There is a wide range of symptoms that accompany Turner syndrome, including some characteristics that are quite distinctive. These can include females being shorter than average, or having underdeveloped ovaries (which would result in a lack of monthly periods and even infertility).
These particular symptoms and characteristics are apparent in almost all cases of Turner syndrome and because these signs are to do with height and sexual development, Turner syndrome often goes undiagnosed until a girl reaches puberty. Although Turner syndrome can be detected at many different stages of a girl’s life from birth and childhood right into adulthood, sometimes it is never diagnosed! It has been known for Turner syndrome to be discovered before a baby is born during a routine ultrasound scan due to a swelling called Lymphedema in the body’s tissue, which can affect unborn babies with Turner syndrome.
Is there a cure for Turner Syndrome?
Turner syndrome has no cure, but a lot of the related symptoms can be treated and kept under control. Females that have Turner syndrome need to have health checks regularly throughout their lives but, typically, it is possible for the individuals to lead a relatively healthy and normal life, although Turner syndrome can slightly reduce life expectancy, however, improvements can be made if health checks are carried out regularly, meaning that any potential problems can be found and treated at an early stage.
Turner syndrome was first identified in 1938 by Dr Henry Turner, hence how it got its name.