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What is Turner syndrome?

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Quick Answer

Patients with Turner syndrome have only one X chromosome instead of two X chromosomes, according to MedicineNet. Affecting only girls, Turner syndrome hinders growth and delays the onset of puberty, which often leads to infertility or difficulty becoming pregnant later in life.

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What is Turner syndrome?
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Full Answer

Turner syndrome can cause diabetes, thyroid conditions, obesity and kidney problems, reports KidsHealth. Physical characteristics of girls with Turner syndrome include a webbed neck, broad chest and abnormally spaced nipples. Girls with Turner syndrome may experience frequent swelling of the hands and feet.

While the physical characteristics and symptoms of Turner syndrome vary, most girls do not develop ovaries. Treatment options include growth hormone injections to encourage physical growth and estrogen replacement therapy to prevent osteoporosis and to maintain a healthy womb, claims MedicineNet. Many women with Turner syndrome may still carry a child, but they must undergo in vitro fertilization to become pregnant.

Physicians diagnose Turner syndrome through a blood test, known as a karyotype, that provides an accurate chromosome count, according to KidsHealth. Additional medical tests of the heart, ears and kidneys help physicians treat underlying health issues associated with Turner syndrome. With proper treatment and regular medical care, women with Turner syndrome typically lead healthy, productive lives.

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