Turner Syndrome | Diagnosis and Treatment

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How is Turner syndrome diagnosed?

Turner syndrome may be diagnosed either before or after birth. The most reliable way is by using a blood test called a karyotype, a chromosomal analysis that has 99.9 percent accuracy. 

Due to a wide variability in symptoms, some girls with Turner syndrome may not be diagnosed until the teen years or later. Once a diagnosis is made, your daughter’s doctor may recommend one or more of the following tests to see what organs are affected:

What are the treatment options for Turner syndrome?

The specific treatment your child need depends on her individual symptoms and which organs are affected. Treatments may include:
  • growth hormone therapy to increase growth rate and achieve a greater final height
  • estrogen therapy to help develop secondary sexual characteristics
  • progesterone therapy to help bring on a monthly menstrual cycle
  • medications to treat high blood pressure, diabetes or thyroid problems, if needed
  • surgery or a procedure to repair heart problems sometimes found with this condition, such as bicuspid aortic valve or coarctation of the aorta
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