Turner Syndrome (TS) is a genetic condition that affects approximately 1 in 2500 girls and women. TS is characterized by short stature-the girl or woman is usually not taller than 4ft 7in. She may have eyelids that droop, and have ears that are of a slightly different shape-that are set lower on the head than usual. Some females have many moles present on the skin, and have extra folds of skin on the neck. Some girls and women do not always manifest the telltale signs of TS, but rather manifest more of the physical traits that are not clearly seen because the traits are on the inside, rather than the outside.
Girls that have Turner Syndrome do not generally develop fully at puberty related to an anomaly of the ovaries. The ovaries do not develop normally, preventing the normal production of the female hormone estrogen. Estrogen is necessary for a girl to develop her secondary sex characteristics-such as breast development, developing the female curves, the development of hair under the arms and in the pubic area. Most girls with TS grow up to be infertile.
There is no one physical characteristic that identifies Turner Syndrome. Girls with TS don’t all look alike, as in Down syndrome-there seems to be a family resemblance. The slanted eyes, facial appearance, and other characteristics identifies them; not so in Turner syndrome. Some girls and women with TS have some of the characteristics, such as low set ears or droopy eye lids, while others have other less apparent characteristics. Some girls and women have no obvious sighs, but they may have more of the medical problems associated with TS, such as high blood pressure, kidney problems, thyroid problems, diabetes, and cataracts.
If the signs are obvious at birth the baby girl will be diagnosed with Turner syndrome when she is born. If the doctor suspects TS, he/she will order a blood test called a Karotype test that identifies the genetic anomaly. TS occurs when the baby girl is born with only one X chromosome, or when part of the pair of (XX) chromosomes have a piece missing from one of the pair. The karotype test is able to identify if only one X chromosome is present or if there is a missing piece of the pair.
Just as every child is different, every girl with Turner syndrome is different, because the severity of her illness depends on what cells are affected and how the body’s cells are influenced by the genetic anomaly. If the karotype test confirms the diagnosis, the doctor may do further testing to evaluate the child’s hearing, heart and kidney function. Girls with TS may have some learning disabilities, but there is no mental retardation. Girls with TS can write, hear and speak normally, and for the most part, they seem to learn best by hearing. She can reach normal height or near normal height if she is given growth hormones during her growing years.
There is no cure for Turner syndrome, because it is a chromosomal anomaly; however, doctors can help the girls develop through puberty by giving them the hormone, estrogen. Estrogen is usually administered around the age of 12 or 13 years of age. She is then able to have a monthly period, just like other girls. As a woman with TS, she may be able to get pregnant through in vitro fertilization with donor eggs, because there is almost no chance of her conceiving on her own. Once she becomes pregnant through in vitro fertilization, her pregnancy can develop normally; the baby can be delivered normally, just like anyone else-barring any unforeseen problems that might be common to anyone.
It is not known what causes the chromosomal defect associated with Turner syndrome. Approximately 60,000 girls and women have TS in the United States. For more information about TS contact the Turner Syndrome Society. The link will be at the end of this article.
Turner syndrome information page
Mayo Clinic information page