Turner Syndrome is typically diagnosed in early childhood, typically between the ages of two and five. However, it can be diagnosed at any age.
Diagnosis
The diagnosis of Turner Syndrome is based on a combination of physical features, such as short stature, webbed neck, and low hairline, as well as laboratory tests, such as chromosomal analysis.
A doctor may order a karyotype test, which is a type of chromosomal analysis. This test looks for a missing or extra X chromosome, which is found in Turner Syndrome. The doctor may also order a blood test to check hormone levels. Low levels of certain hormones may indicate Turner Syndrome.
In some cases, imaging tests may also be used to diagnose Turner Syndrome. These tests can help to identify certain physical features associated with the syndrome, such as heart defects or kidney abnormalities.
Follow-up Evaluation
Once Turner Syndrome is diagnosed, a doctor will likely recommend a follow-up evaluation. This will include a physical exam to look for any other features associated with the syndrome, such as hearing loss, vision problems, or kidney abnormalities. A doctor may also order additional laboratory tests to evaluate hormone levels and check for other genetic conditions.
In addition to a physical exam, a doctor may refer a patient to a psychologist or counselor to assess their psychological and emotional health. A doctor may also refer a patient to a genetic counselor to discuss the diagnosis and any associated risks.
Conclusion
Turner Syndrome is typically diagnosed in early childhood, typically between the ages of two and five. Diagnosis is based on a combination of physical features and laboratory tests. Once diagnosed, a doctor will likely recommend a follow-up evaluation, which may include additional laboratory tests as well as psychological and genetic counseling.
