Turner's Syndrome

Causes

TS is not an inherited disorder; with high rates of infertility, the syndrome is rarely passed to offspring. At present, no known racial, ethnic, socioeconomic, regional, or other components are thought to contribute or predispose females to TS. It is not associated with any environmental or genetic disorders or disease. TS appears to occur at random and can affect anyone.

Epidemiology

TS occurs in approximately one in 2,000 to 2,500 live female births. Approximately 60,000 girls and women are affected in the United States, with approximately 800 new cases being diagnosed annually.

Globally, least developed nations are at risk for underdiagnosing or misdiagnosing TS due to poor emphasis and focus on the disease along with inadequate access to healthcare. Some common misdiagnoses of TS can be autoimmune thyroiditis, XY gonadal agenesis syndrome, and others.

Presentation

The most common signs and symptoms of adult women with TS are short stature and infertility due to ovarian development pathology. Other common physical features can be a shortened or webbed neck, arms that turn out slightly at the elbow, a low hairline in the back of the head, and finger and fingernail abnormalities. A high arched palate and dental issues may also be present to varying degrees and severity.

Other major problems with TS patients include cardiovascular, kidney, thyroid, and skeletal bone and joint disorders. Also, ear and hearing disorders can arise with excessive otitis media infections that lead to hearing loss.

Inadequate eye alignment, poor vision, cataracts, and red-green color blindness can also be common in girls with TS. In least developed countries, these symptoms are often overlooked and misdiagnosed as mental or physical retardation. This insufficient access to proper healthcare can lead to psychological distress, inadequate coping, maladaptation, and social isolation. Many patients and families can benefit from support groups and ongoing care plans.

...