Turner Syndrome

Definition - What does Turner Syndrome mean?

Turner Syndrome is a condition in which a girl or woman is missing part or all of an X chromosome. The condition is present at birth, but may sometimes go undiagnosed until puberty or adulthood in people with mild symptoms.

Most women with Turner Syndrome have ovaries that do not function properly. These women may experience ovarian failure very early in life, sometimes even before puberty. Women with ovarian failure need the help of assisted reproductive technology in order to become pregnant.

FertilitySmarts explains Turner Syndrome

Most people have two sex chromosomes. Most women have two X chromosomes, while most men have an X and a Y. In Turner Syndrome, some or all of the cells in a person's body have only one X chromosome.

This can happen because one parent's reproductive cell did not have a sex chromosome, or because an error in cell division early in fetal development caused some cells not to get a sex chromosome.

If a person with Turner Syndrome did not inherit a sex chromosome from one parent, they may only have one X chromosome in all their cells.

If they had an error in early cell division, some cells may have a second X chromosome or a Y chromosome. The person usually develops as female because most cells do not have the Y chromosome.

This can lead to a variety of symptoms, which vary by severity according to individuals. Symptoms can include:

Unusual appearance:

  • Swollen hands and feet
  • Wide or "weblike" neck
  • Receding or small lower jaw
  • High, narrow roof of the mouth
  • Ears set low on the head
  • Low hairline at the back of the head
  • Broad chest with wide space between nipples
  • Short fingers and toes
  • Arms that turn outward at the elbows
  • Fingernails and toenails that are narrow and turned upward
  • Delayed growth throughout childhood
  • Short adult stature (often 8 or more inches shorter than other family members)

Health symptoms:

  • Small stature at birth
  • Heart and kidney abnormalities
  • Immune disorders
  • Hearing loss
  • Dental and orthodontic problems due to unusual jaw shape
  • Learning disabilities involving math or spatial concepts
  • Difficulties interpreting social cues
  • Lack of puberty
  • Sexual development that "stalls" during teenage years
  • Increased risk of cardiovascular problems, including aortic dissection
  • If puberty occurs, menstruation may stop in the teens or 20s
  • If a woman with Turner Syndrome gets pregnant, she may have an increased risk of complications including high blood pressure, aortic dissection, and gestational diabetes

Some women are diagnosed with Turner Syndrome because their doctor notices these symptoms at birth or during childhood. Others may have few signs or symptoms until puberty fails to proceed normally, or menstruation stops at an early age.

Once Turner Syndrome has been diagnosed, additional tests may be ordered to determine if a woman is at risk for serious cardiovascular problems. Women with some cardiovascular problems associated with Turner's Syndrome may be advised not to become pregnant.

In most cases, women with Turner Syndrome can become pregnant with the help of a donated egg or embryo and artificial hormones to prepare the uterus for pregnancy. However, Turner's Syndrome pregnancies do carry increased risk of serious health problems for the mother and fetus.

Many women with Turner Syndrome do go on to have healthy babies, but women with Turner Syndrome should be aware of their personal risk level before obtaining fertility assistance.


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