Causes And Complications of Turner Syndrome

Turner syndrome is a genetic condition that occurs when there is a fully or partially missing X chromosome. It only develops in women, as they have two X chromosomes. The severity of the condition varies depending on what parts of the genetic code are missing. Patients may experience various developmental and medical issues in this condition. Turner syndrome is diagnosed through prenatal genetic testing, at birth, or in a child's early years. 

Patients need Turner syndrome treatment. It is the only way for them to have a chance of effectively managing their symptoms. Most patients will receive growth hormone therapy for Turner syndrome. Girls will also require estrogen therapy for Turner syndrome. Receiving estrogen in this way is what allows them to begin puberty. Of course, a specialist team will be chosen based on a patient's symptoms and needs. They should help patients prevent and manage complications of Turner syndrome as well.

Genetic Abnormalities


As they have two X chromosomes, women are the ones who may develop Turner syndrome. This happens when one of their X chromosomes is compromised. Turner syndrome patients will have one healthy X chromosome that carries out all the necessary genetic functions. However, the other will have an altered structure that causes part of the genes to be missing or function abnormally. Some individuals with the condition have no second X chromosome at all. Around half of all Turner syndrome patients only have one X chromosome. The other half have a damaged or rearranged X chromosome. 

For some Turner syndrome patients, the changes only occur in some of their cells. Thus, other cells will have two functional X chromosomes. This is called mosaicism. Its presentation in Turner syndrome is called mosaic Turner syndrome. There still needs to be research to determine exactly which X chromosome genes most significantly affect Turner syndrome symptoms.

Reveal information on the complications of this condition now.

Katherine MacAulay