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Turner syndrome

Syndroma Turner (45,X) · Turnerův syndrom

female only

What it is

A girl born with one X chromosome instead of two: short, with ovaries that fail early, and heart and kidney differences.

Symptoms & signs

  • Short stature
  • no puberty or early loss of periods
  • broad neck, low hairline
  • heart defect (coarctation, bicuspid valve)
  • hearing problems
  • infertility

🚩 Get help if…

  • call 112 / 911 now Sudden tearing chest or back pain
  • call 112 / 911 now Chest pain or breathlessness in pregnancy
  • see a doctor soon No breast growth by age 13 or no periods by 15
  • see a doctor soon Poor growth compared with other children

Where it strikes

Medical treatment

  • Karyotype
  • growth hormone in childhood
  • oestrogen for puberty and bones
  • heart and kidney monitoring
  • egg donation or fertility preservation

Natural & lifestyle

  • Exercise and healthy weight
  • bone care

Emerging & experimental

  • Ovarian tissue freezing in childhood
  • aortic imaging guidelines

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Vitamin D and calcium — support bone early / small studies
  • Herbal fertility remedies — cannot restore failed ovaries anecdotal / traditional
  • Exercise — improves insulin resistance early / small studies

ICD codes