- General Appearance: Some individuals with Turner syndrome have a short neck with a webbed appearance, a low hairline at the back of the neck, and low-set ears. Hands and feet of affected people may be swollen or puffy at birth, and often have soft nails that turn upward at the ends when they are older. These features appear to be due to obstruction of the lymphatic system during fetal development. Another characteristic cosmetic feature is the presence of multiple pigmented nevi, which are colored spots on the skin, or moles.
- Short Stature: Almost all individuals with Turner syndrome have short stature. This is partially due to the loss of one copy of the SHOX gene on the X-chromosome. This particular gene is important for long bone growth. The loss of SHOX may also explain some of the skeletal features found in Turner syndrome, such as short fingers and toes, and irregular rotations of the wrist and elbow joints. Linear growth is attenuated in utero, and statural growth lags during childhood and adolescence, resulting in adult heights of 143-145 cm (approximately 4 feet 8 inches). Final adult height in Turner syndrome can be increased by a several inches if growth hormone (GH) treatment is given relatively early in childhood.
- Puberty/Reproduction: Unknown genes on the X-chromosome regulate the development and functions of the ovaries. Most people with Turner syndrome experience loss of ovarian function early in childhood, and thus do not enter puberty at the normal age. Some teenagers may undergo some breast development and begin menstruating, but cease further development and menses during the later teen years. A few women with Turner syndrome have apparently normal ovarian function with regular menses until the mid-20s before ovarian failure occurs. A few spontaneous pregnancies have been reported.
It is standard medical practice to treat girls with Turner syndrome with estrogen to induce breast development and other features of puberty if spontaneous puberty does not occur. Girls and women with Turner syndrome should take estrogen-progesterone treatment to maintain their secondary sexual development and to protect their bones from osteoporosis until the usual age of menopause (50 years).
Most women with Turner syndrome do not have ovaries with healthy oocytes capable of fertilization and embryo formation. Current assisted reproductive technology, however, may allow women to become pregnant with donated oocytes. However, the risk of maternal complications, such as diabetes, high blood pressure, and aortic dissection, is high in women with Turner syndrome.
- Cardiovascular: Between five to 10% of children with Turner syndrome are found to have a severe constriction of the major blood vessel coming out from the heart, a condition known as “coarctation of the aorta.” This can be surgically corrected as soon as it is diagnosed. Other major defects in the heart and its major vessels are reported to a much lesser degree.
Approximately 30% of individuals with Turner syndrome are reported to have “bicuspid aortic valve,” meaning that the major blood vessel from the heart has two rather than three components to the valve regulating blood flow. This condition has been discovered mainly by medical imaging studies on women without symptoms, and may not be clinically obvious. It requires careful medical monitoring, since bicuspid aortic valves can deteriorate or become infected. Comprehensive screening and evaluation by a cardiologist with expertise in congenital heart conditions is essential for all patients with Turner syndrome at the time of diagnosis. The evaluation should include cardiac magnetic resonance as well as echocardiography and ECG.
Many women with Turner syndrome have high blood pressure, which may be apparent even in childhood. In some cases, high blood pressure may be due to aortic constriction or to kidney abnormalities (see Kidney section below). In a majority of women, however, no specific cause for the high blood pressure has been found.
- Kidney: Kidney malformations affect about one-third of people with Turner syndrome. Although the kidneys usually function normally, there may be a tendency towards urinary infections.
- Osteoporosis: There is a high incidence of osteoporosis – thin or weak bones–in women with Turner syndrome. Osteoporosis leads to loss of height, curvature of the spine, and increased bone fractures. The primary cause of osteoporosis in individuals with Turner syndrome appears to be inadequate circulating estrogen in the body. Turner women who have low levels of estrogen due to ovarian failure can take estrogen treatments, which helps prevent osteoporosis. It is possible that other factors contribute to the severity of osteoporosis in Turner syndrome. For example, there may be defects in bone structure or strength related to the loss of unknown X-chromosome genes.
- Diabetes: Type II Diabetes, also known as adult-onset diabetes, has a high occurrence rate in people with Turner syndrome. Individuals with Turner syndrome have twice the risk of the general population for developing this disease. The reason is unknown, but there appears to be insufficient insulin release in response to glucose.
Type II Diabetes can be controlled through careful monitoring of blood-sugar levels, diet, exercise, regular doctor visits, and sometimes medication.
- Thyroid: Approximately one-third of individuals with Turner syndrome have a thyroid disorder, usually hypothyroidism. Symptoms include decreased energy, dry skin, cold-intolerance, and poor growth. In most cases, it is caused by an immune system attack on the thyroid gland (also known as Hashimoto’s thyroiditis). Although it is not known why thyroid disorders occur with a high frequency in Turner syndrome, the condition is easily treated with thyroid hormone supplements.
- Cognitive Function/Educational Issues: In general, individuals with Turner syndrome have normal intelligence. However, some girls and women with Turner syndrome may have difficulty with specific visual-spatial coordination tasks (e.g., mentally rotating objects in space) and math (geometry, arithmetic). This very specific learning problem is called the “Turner neurocognitive phenotype” and appears due to loss of X-chromosome genes which are important for selected aspects of nervous system development. The verbal skills of individuals with Turner syndrome are usually normal or superior.