Turner syndrome can cause a wide variety of symptoms; some of the most obvious manifestations of the disease include having a characteristic physical appearance, with a short stature, webbed neck, and broad chest. The cardiovascular complications of Turner syndrome can cause chest pain, shortness of breath, and palpitations. Undeveloped ovaries can hinder the reproductive capabilities and sexual development of affected women. Malformations of the kidneys can put patients at an increased risk for infection or obstruction of the urinary system, resulting in a number of symptoms. Other Turner syndrome symptoms are seen less commonly, but can include problems with the eyes, bones, or gastrointestinal system.
Many of the Turner syndrome symptoms are evident in the physical characteristics of affected patients. Adults with the condition have a short stature, and often suffer from poor growth throughout their lives. Other typical physical characteristics of these patients are broad chests and short, thick necks. Poor development of the fingernails is also often seen.
Turner syndrome can often affect the heart, and the subsequent cardiovascular abnormalities can cause a number of symptoms. Many patients with this syndrome have a condition called “coarctation of the aorta” that results in a narrowing of the aorta, a large blood vessel carrying blood away from the heart. Symptoms of this condition can include shortness of breath with exercise, chest pain, loss of consciousness with exertion, and headache. Occasionally, some patients can develop a tear in the wall of their aortas, causing a sudden chest pain. Patients who experience this symptom should go to the emergency room, as the condition could be life-threatening.
Undeveloped ovaries can be a source of some sexual and reproductive Turner syndrome symptoms. Without sufficient production of estrogen by the ovaries, some women fail to experience puberty. They never menstruate, do not develop breasts, and fail to develop pubic hair. Other women mature more fully and do begin menses, only to go through premature menopause in their 20s. Symptoms of menopause can include hot flashes, night sweats, and mood changes.
The kidneys can also be affected by this disease. Malformations of the kidney can include having one conjoined U-shaped kidney instead of two separate kidneys — a condition called horseshoe kidney — or having an abnormal blood supply to the kidney. These structural abnormalities increase patients’ risk for infection of the kidneys or obstruction of the flow of urine through the urinary system. The kidney-associated Turner syndrome symptoms can thus include fever, pain with urination, inability to urinate, and pain in the lower back.
Other Turner syndrome symptoms are less common, but can still develop in affected patients. Patients can have osteoporosis, which can result in symptoms such as bone pain. Abnormalities in the eyes can develop, resulting in loss of vision, blurry vision, and red-green color blindness. Patients with Turner’s syndrome are also at an increased risk for celiac disease, which is a gastrointestinal disease resulting in diarrhea and abdominal pain.