Turner Syndrome Symptoms

Turner syndrome is a rare, exclusively female disease that has a number of symptoms, including a short stature and a neck that appears webbed. Because Turner syndrome affects one of the X chromosomes in women, girls affected with this condition often also experience delayed and underdeveloped sexual characteristics (such as a lack of menstruation), as well as infertility.

Common Symptoms of Turner SyndromeWhile Turner syndrome is characterized by a number of symptoms, interestingly enough, no two individuals suffering from this condition will experience the exact same symptoms. Although the precise reason for this is unknown, many medical experts suspect that the unique nature of human chromosomes is responsible for the highly individualized symptoms of Turner syndrome.

Short Stature and Webbed Neck

Since the gene that is responsible for long bone growth exists on the part of the X chromosome which is damaged or missing in Turner syndrome patients, short stature is one of the defining characteristics of this condition. Women with Turner syndrome typically stand at 4 feet 7 inches tall (about 140 cm).

If, however, Turner syndrome is diagnosed early, girls will receive growth hormones early in childhood, causing them to grow slightly taller. Nevertheless, all growth varies among individuals whether or not they take growth hormones.

Another common feature of Turner syndrome is a shorter neck marked by folds of skin that give it a webbed appearance.

Menstruation Cycle

Because Turner syndrome is caused by an abnormality on the X chromosome, it leads to problems with a patents sexual development, especially when a girl starts her menstruation cycle during puberty. The most common menstrual problem Turner syndrome girls experience is either a delayed cycle (that may not start until a girls late teens) or a cycle that begins normally and then slowly stops.

While most women with Turner syndrome are infertile, pregnancies are occasionally reported. Recent advances in reproductive technology are giving women with Turner syndrome much better chances of bearing children.

Because puberty is so often delayed or compromised, secondary sexual characteristics (such as breast development) are also slowed or limited. As a result, estrogen hormone therapy is usually prescribed if there is an absence of puberty in a Turner syndrome patient. The estrogen hormone promotes body maturation and helps prevent osteoporosis, another common affliction in women with Turner syndrome.

Emotional Symptoms of Turner Syndrome

Since Turner syndrome seriously affects a girls development into a woman, many young women with Turner syndrome experience a number of emotional issues during and after puberty. Retaining the body of a child can make some women with Turner syndrome suffer from:

  • anxiety
  • depression
  • poor self-esteem.

Other Symptoms

In addition to short stature, a webbed neck and problems with Chart with cardiovascular abnormalities due to Turner Syndrome.the menstruation cycle, women living with Turner syndrome may also exhibit:

  • arms turned out from the elbow to the wrist
  • a low hairline (at the back of the neck)
  • broad chest
  • difficulty with mathematics and visual-spatial tasks
  • droopy eyelids
  • hearing problems
  • high blood pressure
  • kidney problems
  • low ears
  • lymphoedema (swollen hands and feet)
  • memory problems (due to a lack of the estrogen hormone)
  • obesity
  • soft fingernails and toenails.

What Turner Syndrome is Not

Turner syndrome is not . . .

  • . . . hereditary. No evidence exists that Turner syndrome runs in families.
  • . . . a sign of mental retardation. Women with Turner syndrome are not mentally retarded. Although this condition may contribute to some learning problems with math, women living with Turner syndrome fall into the normal range of intelligence.

Diagnosing Turner Syndrome

Early detection of Turner syndrome is important to getting immediate treatment that can help afflicted girls combat some of the physical and emotional symptoms of this condition. While doctors can detect Turner syndrome in a fetus through ultrasound and the amniocentesis, once a baby is born with Turner syndrome, doctors use a blood test, known as a karyotype, in the diagnostic process. During a karyotype, doctors examine the chromosomal composition of a patients blood. Once a proper diagnosis has been made, treatment can begin.

Resources

Developmental Disabilities Resources for Healthcare Providers. (updated 2003) Turner syndrome.

National Institute of Child Health and Development. (updated 2004). Genetic features of Turner syndrome.

Ploof, S. (April, 1999) Definition: Turner’s syndrome.

University of Maryland Medicine. (October, 2001). Turner’s syndrome.