Question 1

What is Turner Syndrome?

Accepted Answer

Turner syndrome is a genetic condition affecting females where one X chromosome is completely or partially missing. It is caused by the absence or structural abnormality of the second sex chromosome, leading to impaired ovarian development and hormonal dysfunction. The Follicle-Stimulating Hormone (FSH) test is the most important blood test for monitoring Turner syndrome because it reveals elevated levels indicating ovarian dysfunction.

Question 2

What causes Turner syndrome?

Accepted Answer

Turner syndrome is caused by the complete or partial absence of one X chromosome in females. This chromosomal abnormality occurs randomly during the formation of reproductive cells in a parent or in early fetal development. The missing or altered X chromosome affects the development of many body systems, particularly the ovaries, which fail to develop normally and lead to hormonal imbalances, short stature, and other characteristic features of the condition.

Question 3

What is the best test for Turner syndrome?

Accepted Answer

The Follicle-Stimulating Hormone (FSH) test is the most important blood test for monitoring Turner syndrome because it directly measures the hormonal impact of ovarian dysfunction. Girls and women with Turner syndrome typically show significantly elevated FSH levels as the pituitary gland tries to compensate for poorly functioning ovaries. Additional essential tests include the Estradiol test to measure the primary female sex hormone, which is often very low in Turner syndrome, and the Anti-Mullerian Hormone (AMH) test to assess ovarian reserve and potential fertility. The FSH and LH combined test provides a comprehensive view of reproductive hormone status and helps guide hormone replacement therapy decisions.

Question 4

When should I get tested for Turner syndrome?

Accepted Answer

You should get tested if you or your daughter shows signs of delayed puberty, such as lack of breast development by age 13 or no menstrual periods by age 15. Testing is also important if there is unusually short stature compared to family members, a webbed neck, or swelling of the hands and feet. Girls diagnosed with Turner syndrome need regular blood work to monitor FSH, estradiol, and AMH levels throughout childhood and adolescence to guide hormone replacement therapy and assess ovarian function.

Question 5

What are the symptoms of Turner syndrome?

Accepted Answer

Turner syndrome presents with a range of physical and developmental symptoms. The most common signs include short stature, delayed or absent puberty, lack of menstrual periods, webbed neck, low-set ears, and a broad chest with widely spaced nipples. Many girls with Turner syndrome also experience swelling of the hands and feet at birth, heart defects, kidney abnormalities, hearing problems, and learning difficulties particularly with spatial concepts and math. The severity of symptoms varies widely depending on whether the X chromosome is completely missing or only partially affected.

Question 6

Who is at risk for Turner syndrome?

Accepted Answer

Turner syndrome occurs randomly and affects approximately 1 in 2,000 to 2,500 female births worldwide. It is not inherited and does not run in families, meaning parents who have one child with Turner syndrome are not at increased risk of having another affected child. The condition affects only females because it involves the X chromosome. There are no known environmental or lifestyle factors that increase the risk, and maternal age does not appear to be a contributing factor. The chromosomal abnormality occurs by chance during egg or sperm formation or early in fetal development.

Question 7

What happens if Turner syndrome is left untreated?

Accepted Answer

Untreated Turner syndrome can lead to serious health complications throughout life. Without growth hormone therapy during childhood, girls will remain significantly shorter than average, typically reaching an adult height of only 4 feet 8 inches. The absence of estrogen replacement therapy results in failure to develop secondary sexual characteristics, including breast development and menstruation, and leads to severe osteoporosis in adulthood. Women with untreated Turner syndrome face increased risks of heart problems including aortic dissection, high blood pressure, diabetes, thyroid disorders, and hearing loss. Early diagnosis and consistent medical management are essential for preventing these complications and improving quality of life.

Question 8

Can Turner syndrome be diagnosed with a blood test?

Accepted Answer

Turner syndrome cannot be diagnosed with blood tests alone, as the definitive diagnosis requires a karyotype analysis, which is a genetic test that examines the chromosomes. However, blood tests play a crucial role in identifying hormonal abnormalities that suggest Turner syndrome and monitoring the condition once diagnosed. Elevated FSH levels combined with low estradiol in a young girl who shows delayed puberty or short stature strongly suggests ovarian failure and prompts further genetic testing. Once Turner syndrome is confirmed, regular blood work measuring FSH, estradiol, LH, AMH, thyroid hormones, and glucose levels is essential for managing treatment and preventing complications.

Question 9

How is Turner syndrome treated?

Accepted Answer

Turner syndrome requires lifelong multidisciplinary medical management tailored to each individual. Growth hormone therapy is typically started in early childhood to improve final adult height and should continue until growth is complete. Estrogen replacement therapy usually begins around age 11-12 to initiate puberty and develop secondary sexual characteristics, with progesterone added later to establish menstrual cycles and protect bone health. Regular monitoring includes blood tests to check hormone levels, heart screenings, kidney function tests, hearing assessments, and bone density scans. Many women with Turner syndrome also benefit from psychological support, fertility counseling, and treatment for associated conditions like thyroid disorders, diabetes, and high blood pressure.

Question 10

How can I prevent Turner syndrome?

Accepted Answer

Turner syndrome cannot be prevented because it results from a random chromosomal abnormality that occurs during egg or sperm formation or early fetal development. The condition is not caused by anything parents did or did not do during pregnancy, and there are no known environmental, dietary, or lifestyle factors that increase or decrease the risk. Since Turner syndrome does not run in families and occurs by chance, genetic counseling is generally not necessary unless there are other genetic concerns. However, early detection through prenatal screening or newborn evaluation allows for prompt medical intervention, which significantly improves outcomes and quality of life.

Question 11

What can I do at home to support Turner syndrome?

Accepted Answer

While Turner syndrome requires medical management, supportive home care can significantly improve quality of life. Ensure adherence to prescribed hormone replacement therapy by setting daily reminders and maintaining a consistent medication schedule. Encourage a calcium-rich diet with dairy products, leafy greens, and fortified foods to support bone health, and promote regular weight-bearing exercise like walking, dancing, or strength training. Create an emotionally supportive environment by connecting with Turner syndrome support groups, addressing self-esteem concerns related to short stature or delayed development, and maintaining open communication about the condition. Regular follow-up appointments and blood work monitoring are essential, so keep a health journal tracking symptoms, medication adherence, and any concerns to discuss with healthcare providers.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Turner Syndrome Blood Test

What is Turner Syndrome?

What causes Turner syndrome?

What is the best test for Turner syndrome?

When should I get tested for Turner syndrome?

References

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