Turner syndrome, also known as Turner's syndrome, is a genetic disorder of females characterized by the complete or partial absence of one of the two X chromosomes. The syndrome occurs in about 1 per 3,000 live female births. Affected newborns typically are below average in length, with swollen hands and feet and loose folds of skin (called webbing) on the neck. Common signs in older children and adults include short stature, a low hairline, low-set ears, a wide chest, underdeveloped nails, and kidney and cardiovascular abnormalities. The ovaries do not produce the necessary hormones, and Turner syndrome girls do not undergo the full physical changes of puberty, such as breast development and menstruation. Turner syndrome patients have normal intelligence, but some may be below average mathematical ability and spatial-relations skills.
Treatment of Turner syndrome focuses on enabling girls to attain puberty through hormone replacement therapy, as well as trying to maximize height potential through the use of human growth hormone. In the past almost all Turner syndrome patients were infertile, but hormone replacement therapy and infertility treatments have enabled some women to have babies. Surgery is used to correct cardiovascular abnormalities and facial deformities.
In some Turner syndrome cases, the patient has a combination of two X chromosomes (XX) in some tissues and only one (XO) or three (XXX) in other tissues. These Turner patients are called mosaics and may have fewer symptoms or a lesser expression of the syndrome.
The syndrome is named for Dr. Henry Turner, the American physician who first (1938) described it.