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Turner Syndrome FAQ: Part 2

Answers to Your Most Common Questions

How is Turner syndrome diagnosed?
Because the signs of Turner syndrome are usually obvious, most girls with the condition are diagnosed shortly after birth or in early childhood. But you can be diagnosed with TS at any age. In fact, there are some women who experience a normal puberty and are diagnosed with the condition later as an adult. Whatever the age, the test used to diagnose Turner syndrome is the same—and it is known as a karyotype.

A karyotype is a blood test that produces an image of your chromosomes. That way, your doctor can identify whether one of your sex chromosomes is missing or partially missing.

To learn more, read our article about how Turner syndrome is diagnosed.

What are the complications of Turner syndrome?
Below are medical conditions that are commonly associated with Turner syndrome. If one or more of these conditions develop, close monitoring by your doctor will help manage the problem.

  • Infertility
  • Heart problems
  • Kidney problems
  • Hypothyroidism
  • Ear and hearing problems
  • Celiac disease

Understand that just because you have Turner syndrome doesn't guarantee that you will develop one of these conditions. Turner syndrome puts you at a higher risk of having these complications than someone who does not have TS.

Can I get pregnant if I have Turner syndrome?
Women with TS have trouble having conceiving naturally because they are susceptible to early ovarian insufficiency. The ovaries produce estrogen, a hormone that promotes the healthy development of female sex characteristics during puberty and ensures fertility.

Even with years of estrogen replacement therapy, it's rare for a woman with Turner syndrome to naturally conceive a child. Fortunately, there are many options available to help a woman with TS have a baby. Learn more about them in our article about fertility treatments for Turner syndrome.

How is Turner syndrome treated?
Turner syndrome is first treated with human growth hormone. When a girl reaches puberty, she will then begin estrogen replacement therapy.

The primary purpose of growth hormone is to regain height in girls with TS. Without growth hormone treatment, the average height of an adult woman with Turner syndrome is 4 ft 8 in.

If treatment starts early and is maintained, it's possible for girls with Turner syndrome to reach a normal height.

Like growth hormone, estrogen replacement therapy is a standard treatment for Turner syndrome. The purpose of estrogen therapy is two-fold—to prompt the body into beginning puberty and to maintain healthy sexual development and functioning throughout adulthood.

Early ovarian insufficiency is common in people with Turner syndrome. If the ovaries are unable to produce sex hormones, such as estrogen, then healthy sexual development won't occur. Fortunately, estrogen replacement therapy effectively replaces these hormones if the body can't make them itself.