Turner syndrome

Turner Syndrome

Turner Syndrome (pronounced: /ˈtɜːrnər ˈsɪndroʊm/), also known as Ullrich-Turner Syndrome or 45,X, is a chromosomal abnormality in which a female is partly or completely missing an X chromosome. The condition is named after Dr. Henry Turner, who first described it in 1938.

Etymology

The syndrome is named after the American endocrinologist Henry Turner, who first described the condition's features in the 1930s. The term "syndrome" is derived from the Greek word "σύνδρομον" (syndromon), meaning "concurrence of symptoms" or "running together".

Symptoms and Signs

Turner Syndrome can cause a variety of medical and developmental problems, including short stature, failure to start puberty, infertility, heart defects, and certain learning disabilities. Despite these potential complications, with appropriate medical care, individuals with Turner Syndrome can lead healthy lives.

Diagnosis

Turner Syndrome is typically diagnosed through a genetic test called a karyotype. This test looks at the number and structure of a person's chromosomes. Prenatal screening tests such as amniocentesis or chorionic villus sampling can also detect Turner Syndrome before birth.

Treatment

There is no cure for Turner Syndrome, but there are treatments that can help manage the symptoms. These may include hormone therapy to promote growth and sexual development, and regular monitoring and treatment for potential health complications.

Related Terms

• Chromosome
• X chromosome
• Karyotype
• Amniocentesis
• Chorionic villus sampling
• Hormone therapy

External links

• Medical encyclopedia article on Turner syndrome
• Wikipedia's article - Turner syndrome

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