Turner syndrome occurs in 1 in 2,000-2,500 females. TS is a genetic disorder resulting in short stature, lack of puberty along with several other medical issues. The severity of these problems varies among affected individuals.
The name "Turner syndrome" comes from the physician, Dr. Henry Turner, who first described the collection of findings in 1938. It was not until 1959 that the cause of Turner syndrome (missing all or part of one of the X chromosomes) was identified.
Normally in reproduction, a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby ends up with a complete set of 46 chromosomes, half from the father and half from the mother.
Sometimes, an error occurs when an egg or sperm cell is forming, causing it to have a missing sex chromosome. Turner syndrome occurs when this cell fails to contribute a sex chromosome to the embryo resulting in all or part of one of the X chromosome being missing.
Short stature is the most common feature of Turner syndrome. The average adult height of a woman with Turner syndrome is 4 feet 8 inches, although some women reach 5 feet. Growth hormone therapy is used in girls with Turner syndrome to increase their height.
Most girls with Turner syndrome are born with poorly formed or absent ovaries. Ovaries produce estrogen and without estrogen production, normal pubertal development does not occur. Signs of puberty, such as breast development, menstruation (periods), often do not occur without the help of hormone therapy.
While short stature and lack of puberty are the most common medical issues in girls with Turner syndrome, there are several other medical issues that can occur. These include cardiac abnormalities, renal (kidney) abnormalities, hearing problems, skin disorders, dental/orthodontic issues and learning issues, to name a few.
The diagnosis of Turner syndrome can be made in utero (during pregnancy), shortly after birth, during childhood or in late teens.
Chromosomal abnormalities such as Turner syndrome can often be diagnosed before a baby is born, by analyzing cells in the amniotic fluid or from the placenta. A chromosome analysis, whether performed on a blood sample, cells from the amniotic fluid or the placenta, is over 99.9 percent accurate.
Fetal ultrasound during pregnancy can also give information about the possibility of Turner syndrome, but ultrasounds are not 100 percent accurate, and many babies with Turner syndrome may look the same on ultrasound as those without Turner syndrome.
Sometimes features of TS are noted at birth which leads to the diagnosis of TS. When a girl is born with features suggestive of Turner syndrome, the physician usually takes a blood sample for 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.
Sometimes girls with Turner syndrome do not exhibit any signs of the condition as infants or children. It is only when they fail to go through puberty that a physician begins to suspect that Turner syndrome may be present.
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.
Your physician may refer you to a genetic physician or genetic counselor who can explain what tests are available to diagnose chromosome problems before a baby is born.
There is no cure for Turner syndrome; however, many of the more serious problems can be treated. For example, growth hormone can be given to improve final adult height; hormone replacement therapy can be given so that girls will develop signs of puberty.
There are organizations across the country that provide information and support for families with children affected by Turner syndrome. In addition, websites such as the Turner Syndrome Society offer in-depth information about TS.
Reviewed by: Denise Gruccio, CRNP
Date: October 2011