Frequently Asked Questions

Turner Syndrome

  • What types of problems do girls with Turner syndrome typically have?

      About half of girls born with Turner syndrome will have puffy hands and feet at birth, in addition to wideness and webbing of the neck. During a pregnancy, the physician may have seen a structure called a "cystic hygroma" during fetal ultrasound. Cystic hygromas are fluid-filled sacs at the base of the neck and they often go away prior to birth; but, in some cases, are still present in the newborn period.

      Girls with Turner syndrome usually have a low hairline at the back of the neck, minor differences in the shape and position of the ears, a broad chest with widely spaced nipples, an increased number of small brown moles (nevi) on the skin, and deep-set nails. 

      Short stature is the most visible feature of Turner syndrome. The average adult height of a woman with Turner syndrome is four feet, eight inches. Most women with Turner syndrome are born with poorly formed or absent ovaries. Ovaries produce estrogen and without it, incomplete sexual development occurs. The usual signs of puberty - breast development, menstruation, and growth of pubic and axillary hair - do not occur without hormone therapy. The resulting infertility is not correctable, in most cases.

      Heart problems, kidney problems and thyroid problems are also common in Turner syndrome and should be evaluated early on. About one in ten girls with Turner syndrome is born with coarctation of the aorta (constriction of the main artery leaving the heart), which sometimes needs to be corrected surgically. 

      Other features which have been seen in Turner syndrome include feeding problems during infancy, middle ear infections, skeletal problems and "cubitus valgus." Cubitus valgus basically describes a situation where a person standing with their arms at their sides, will have their elbows slightly bent. They are unable to keep their arms perfectly straight at their sides. 

      Other reported medical findings in Turner syndrome include diabetes, dry skin, high blood pressure, a small jaw and a narrow high-arched palate (the top of the inside of the mouth).

      Girls with Turner syndrome generally have normal intelligence. They tend to score higher on their verbal IQ than their nonverbal IQ, and may have problems in the areas of spatial perception and an increased incidence of specific learning disabilities.

  • What is the risk of parents of a daughter with Turner syndrome having another daughter with Turner syndrome?

      In general, in each subsequent pregnancy, the chance of having another baby with Turner syndrome would not be increased over the maternal age risk for chromosome abnormalities that affects every woman.

      After birth, the physician usually takes a blood sample from a baby suspected of having Turner syndrome to perform a chromosomal analysis (called a karyotype). This confirms the physical findings of Turner syndrome and determines the underlying chromosomal abnormality. Your physician may explain the results of the test to you or refer you to a genetic physician or genetic counselor who can explain the results of chromosomal tests, as well as what tests are available to diagnose chromosome problems before a baby is born.

  • Can Turner syndrome be cured or prevented?
      There is no cure for Turner syndrome; however, many of the more serious problems can be treated. For example, growth hormone and androgen therapy can be given to increase final adult height; hormone replacement therapy can be given so that girls will develop secondary sexual characteristics; coarctation of the aorta can be surgically corrected if needed; and medications are available to treat high blood pressure, diabetes and thyroid problems.
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