Turner

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Turner Syndrome

Turner Syndrome (pronounced: /ˈtɜːrnər sɪnˈdroʊm/), also known as 45,X or 45,X0, is a condition that affects only females, resulting from a missing or incomplete sex chromosome. The syndrome is named after Dr. Henry Turner, who first described it in 1938.

Etymology

The term "Turner Syndrome" is derived from the name of the endocrinologist, Dr. Henry Turner, who first reported the condition in 1938. The numerical designations 45,X and 45,X0 refer to the chromosomal abnormality that characterizes the condition.

Definition

Turner Syndrome is a genetic disorder that affects about 1 in every 2,500 girls worldwide. It is characterized by a range of physical features and health problems, including short stature, failure to start puberty, infertility, heart defects, and certain learning disabilities. The severity of these features varies widely among affected individuals.

Symptoms

The most common symptoms of Turner Syndrome include:

  • Short stature
  • Lymphedema (swelling in hands and feet)
  • Broad chest (shield chest) and widely spaced nipples
  • Low hairline
  • Low-set ears
  • Small lower jaw (micrognathia)
  • Upturned nails
  • Dry eyes
  • Infertility

Diagnosis

Turner Syndrome can be diagnosed through a karyotype test, which examines the individual's chromosomes. This test can be performed before birth (prenatally) or after birth (postnatally).

Treatment

While there is no cure for Turner Syndrome, treatments can help minimize its symptoms. These include hormone therapy to promote growth and sexual development, and regular monitoring and treatment for potential heart, kidney, hearing, and other problems.

Related Terms

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