Turner syndrome is a genetic disorder that includes a number of abnormalities caused by a chromosomal defect. The syndrome affects only females and occurs when cells are missing an X chromosome or part of an X chromosome.

Turner syndrome occurs in one of every 2,000 female births worldwide, according to the National Institutes of Health (NIH). Approximately 60,000 girls and women in the United States have the condition, and 800 new cases are diagnosed each year, according to the Turner Syndrome Society. There is no evidence that ethnic or racial factors influence the risk of developing the disorder.

The signs and symptoms of Turner syndrome vary significantly from patient to patient. While some girls may experience numerous symptoms, others may only display a few physical differences and medical difficulties. The most common physical characteristics include short stature and incomplete sexual development. Girls with Turner syndrome may also experience significant health problems, such as high blood pressure and kidney and/or heart defects. Most adult women with the genetic condition exhibit short stature and have problems conceiving (infertility).

The condition may be diagnosed during a physical examination at birth or in early childhood. However, the syndrome is sometimes not diagnosed until adolescence.

There is no cure for Turner syndrome, but there are a variety of treatments available to address the problems associated with it. Hormone therapy is the main treatment for Turner syndrome. Girls who receive human growth hormone (HGH) while they are still growing can often achieve a final height that is within the average range. Once satisfactory growth has been achieved, patients will likely undergo estrogen replacement therapy. This helps girls achieve the physical changes that normally occur in puberty, including breast development and menstruation.

In-vitro fertilization (a type of assisted reproduction technology in which fertilized eggs are placed in a woman’s uterus) can allow some women with Turner syndrome to become pregnant.