Turner syndrome is a chromosomal abnormality that occurs in females in which all or part of an X chromosome is missing. Typically, Turner syndrome patients have only 45 chromosomes rather than 46. This condition, which is most often diagnosed either at birth or puberty, only occurs in females. Many therapies can be used to treat Turner syndrome, including hormone injections and reproductive treatments, although there is no cure. This means it is important to identify and accurately diagnose the condition. What signs and symptoms of Turner syndrome should you look for to determine whether your child has this condition?
Most Turner syndrome pregnancies are not viable and do not survive the first trimester, ending in miscarriages or stillbirth. When a live birth occurs, there may be visible or severe congenital disabilities present, including cardiovascular issues and physical deformities. Some children reach the age of puberty before they are diagnosed. In some severe cases, physicians can determine the presence of Turner syndrome in infancy. It is also possible to diagnose Turner syndrome before giving birth by performing an amniocentesis.
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