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Turner Syndrome

Abstract

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NORD is very grateful to Carolyn A. Bondy, MD, Chief, Section on Epigenetics & Development, National Institute of Child Health and Human Development, NIH Clinical Center, for assistance in the preparation of this report.

Synonyms of Turner Syndrome

  • 45,X syndrome
  • Bonnevie-Ullrich syndrome
  • monosomy X
  • Ullrich-Turner syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person to another. Affected females can potentially develop a wide variety of symptoms, affecting many different organ systems. Common symptoms include short stature and premature ovarian failure, which can result in the failure to attain puberty. Most women with Turner syndrome are infertile. A variety of additional symptoms can occur including abnormalities of the eyes and ears, skeletal malformations, heart anomalies, and kidney abnormalities. Intelligence is usually normal, but affected individuals may experience certain learning disabilities. Turner syndrome may be diagnosed before birth or shortly after birth or during early childhood. However, in some cases, the disorder may not be diagnosed until well into adulthood, often as an incidental finding. The exact, underlying cause of Turner syndrome is not known. Furthermore, most cases do not run in families and appear to occur randomly for no apparent reason (sporadically).

Introduction
Turner syndrome is named for Henry Turner who, in 1938, was one of the first doctors to report on the disorder in the medical literature. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females.

Turner Syndrome Resources

Organizations:

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