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Turner Syndrome Overview

A Condition that Affects Girls' Growth and Development

Turner syndrome (TS) is a condition that affects approximately 1 out of every 2,000 girls in the United States. It is caused by the complete or partial lack of one of the female sex chromosomes. This results in a range of complications, including stunted growth and development, an increased risk of heart and kidney problems, and infertility.

Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of 7 girls who all had the same unusual developmental and physical features.

Though most people today refer to the condition as Turner syndrome or TS, your doctor may call it gonadal dysgenesis. This is because one of the defining characteristics of TS is that it affects the ovaries—the primary female gonads or sex glands. Abnormal development or premature insufficiency of the ovaries affects their ability to produce estrogen. This can result in a variety of problems, including infertility, irregular or absent menstrual periods, early menopause, and osteoporosis.

Though every girl or woman with TS experiences her own unique symptoms and signs associated with the disorder, there are common characteristics that they all typically share. Most commonly, people with Turner syndrome have an abnormally short stature—the average height of a person with TS who has not been treated with growth hormone is 4 ft 8 in. Also, most people experience early menopause due to ovarian insufficiency.

Distinctive physical features may also be associated with the Turner syndrome. These include:

  • low-set ears
  • neck hair that extends down toward the shoulders
  • excess skin on the neck
  • droopy eyes
  • scoliosis
  • fingernails and toenails that turn slightly upward
  • flat feet
  • increased angulation at the elbow

To learn more, read our article about the Turner syndrome symptoms.

There is no cure for TS, but there are ways to manage it. Human growth hormone and estrogen replacement therapy are widely used in patients with Turner syndrome and are typically started in childhood. For these treatments to give the most benefit, an early diagnosis is essential.

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Turner Syndrome Symptoms