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Turner syndrome

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General

Turner syndrome is a congenital genetic condition in which a woman is missing one X chromosome, which limits the function of the gonads (sex glands). Typical features include short stature and infertility. Intelligence is usually not significantly impaired.

Treatment:
Treatment includes administration of growth hormone and sex hormones. Pregnancy may be possible for these women after implantation (transfer) of a donor egg.

  • short stature
  • delayed puberty
  • spoon-shaped fingernails; nails are smaller than normal
  • skin folds on the neck (pterygium colli / webbed neck)
  • broad chest
  • widely spaced nipples
  • lymphedema (swelling) of the feet and wrists
  • low-set ears
  • drooping upper eyelids, strabismus (crossed eyes), and myopia (nearsightedness)
  • increased frequency of congenital abnormalities of the kidneys (e.g., horseshoe kidney), heart, and sometimes blood vessels (especially coarctation of the aorta)
  • more frequent middle ear infections and hearing problems
  • delayed psychomotor development
  • various speech disorders
  • underdeveloped ovaries, amenorrhea (a person with Turner syndrome does not menstruate)
  • infertility
  • brown spots on the skin
  • overweight
  • atypical shape of the elbow joint and the upper jaw (maxilla)

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