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Turner Syndrome

What is Turner Syndrome?
Turner syndrome is a disorder caused by a partially or completely missing X chromosome. It is a condition that only affects females.

Most people have 46 chromosomes in each cell - 23 from their mother and 23 from their father. The 23rd pair of chromosomes is called the sex chromosomes - X and Y - because they determine whether a person is male or female. Most females have XX in most of their cells and most males have XY in most of their cells.

Females with Turner syndrome are missing all or part of one of their X chromosomes.

Symptoms of Turner Syndrome
People with Turner syndrome can have a wide variety of symptoms. Some people may have more severe problems, and others may have mild symptoms. Turner syndrome may affect many areas, such as:

• Appearance
  Features may include short neck, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward.
• Stature
  Children with Turner Syndrome grow more slowly than other kids and without treatment tend to be very short as adults.
• Puberty - Reproduction
  Most individuals with Turner Syndrome lose ovarian function in early childhood and do not start puberty at a normal age. These women usually cannot become pregnant naturally.
• Cardiovascular
  Some individuals with Turner Syndrome have structural problems with their hearts or major blood vessels. For this reason, everyone with Turner Syndrome needs a thorough cardiologic evaluation at the time of diagnosis. High blood pressure also affects about 20 percent of girls and 40 percent of adults with Turner Syndrome.
• Kidney
  Some people with Turner Syndrome have kidneys that appear to be structurally abnormal, but their kidney function is usually normal.
• Osteoporosis
  Women with Turner Syndrome who do not get adequate estrogen often get osteoporosis, which can cause loss of height, and increased bone fractures.
• Diabetes
  People with Turner Syndrome are at higher risk for Type II diabetes.
• Thyroid
  Many people with Turner Syndrome have thyroid problems, usually hypothyroidism, or an under-active thyroid.
• Cognitive
  Even though people with Turner Syndrome have normal intelligence, some have problems with specific visual-spatial coordination tasks (such as mentally rotating objects in space) and may have trouble learning math (geometry and arithmetic).

Treatment for Turner Syndrome
Although there is no cure for Turner Syndrome, there are some treatments that can help minimize the symptoms:

• Human Growth Hormone (hGH) given in early childhood can often increase adult height by a few inches.
• Estrogen Replacement Therapy (ERT) can help start up secondary sexual development that normally begins at puberty for girls without Turner Syndrome (such as breast development or developing wider hips). Health care providers may prescribe ERT to girls who haven't started menstruating by age 15.
• Assistive reproductive therapies, such as egg donation, may help some women with Turner Syndrome get pregnant.

For health information Monday through Friday, 8:30 a.m. to 5:00 p.m. EST, you can contact the National Institute of Child Health and Human Development (NICHD) Information Resource Center at:
Phone: 1-800-370-2943
TTY: 1-888-320-6942
Fax: 301-984-1473
Mail: P.O. Box 3006, Rockville, MD 20847
Email: NICHDInformationResourceCenter@mail.nih.gov

References:
National Institutes of Health (NIH)
Eunice Kennedy Shriver
National Institute of Child Health and Human Development (NICHD)
February 2007
www.nichd.nih.gov/health/topics/Turner_Syndrome.cfm

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