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Turner Syndrome (Monosomy X)

What is Turner syndrome?

The human body has 46 (or 23 paired) chromosomes that store genetic material. X and Y chromosomes determine your sex. The male sex has one X and one Y chromosome. The female sex has two X chromosomes.

Turner syndrome is a genetic condition caused by an abnormality on one of your sex chromosomes. It’s also called monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome. Only the female sex develops this condition.

Turner syndrome occurs when part or all of one of your X chromosomes is missing. This condition affects approximately 1 in 2,000 females.

People with Turner syndrome can lead healthy lives. But they typically require some consistent, ongoing medical supervision to detect and treat complications.

There is no way to prevent Turner syndrome, and the cause of the genetic abnormality is unknown.

What are the symptoms of Turner syndrome?

Females with Turner syndrome exhibit certain physical characteristics at birth and in childhood, including:

  • swollen hands and feet (in infants)
  • short stature
  • a high palate
  • low-set ears
  • obesity
  • droopy eyelids
  • flat feet

Females with this condition may also have other medical problems associated with Turner syndrome, including:

  • heart defects
  • infertility
  • problems with sexual development
  • hearing loss
  • high blood pressure
  • dry eyes
  • frequent ear infections
  • scoliosis (spinal curvature)

These symptoms can appear early in infancy. Or, in the case of sexual development and fertility issues, they can develop later in adolescence.

Having one or more of these symptoms doesn’t mean that you have Turner syndrome. It’s important young females suspected of having this syndrome get a thorough examination from a doctor for an accurate diagnosis.

How is Turner syndrome diagnosed?

Prenatal genetic testing done before birth can help a doctor diagnose Turner syndrome. The condition is identified through karyotyping. When performed during prenatal testing, karyotyping can detect if the mother’s chromosomes have any genetic abnormalities.

Your doctor may also order tests to look for the physical symptoms of Turner syndrome. These tests may include:

  • blood tests to check sex hormone levels
  • echocardiogram to examine for heart defects
  • pelvic exam
  • pelvic and kidney ultrasound
  • chest MRI

Are there complications from Turner syndrome?

People with Turner syndrome are at a higher risk for certain medical problems. With appropriate monitoring and regular checkups, you can manage complications.

Kidney abnormalities are common. Some females with Turner syndrome also have recurrent urinary tract infections. The kidneys may be malformed or in the wrong position in the body. These abnormalities can increase the risk of high blood pressure.

Hypothyroidism is a condition where you have low levels of thyroid hormone. This could be another complication. It’s caused by the inflammation of the thyroid gland. Supplemental thyroid hormone can treat it.

People with Turner syndrome also have a higher-than-average risk of developing celiac disease. Celiac disease causes the body to have an allergic reaction to the protein gluten, found in foods like wheat and barley.

Heart abnormalities are common in individuals with Turner syndrome. People with the condition should be monitored for problems with their aorta and high blood pressure.

Obesity may be a complication for some individuals with Turner syndrome. It can increase the risk of developing diabetes.

Living with Turner syndrome

You can still lead a healthy life if you’re diagnosed with Turner syndrome. There is no cure, but there are treatments that can ease your symptoms and improve your quality of life.

Growth hormone injections may help children with Turner syndrome grow taller. Hormone therapy can also aid in the development of secondary sex characteristics like breasts and pubic hair. It’s usually administered at the start of puberty.

Women who are infertile because of Turner syndrome can use donor eggs to get pregnant. Your gynecologist can refer you to a fertility specialist for more information on other methods.

Finding a support group for women with the condition, or talking to a counselor, can give you emotional support and any other challenges you may encounter as a result of your condition.

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