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Turner syndrome

What do you mean by Turner syndrome?

Turner syndrome is a genetic disorder in females when the sex chromosome (X chromosome) in them is either fully missing or partially missing. It can cause a number of medical & developmental problems in females like short height, inability to reach puberty, infertility, heart problems and learning disabilities.

What causes Turner syndrome?
  • Monosomy
  • Mosaicism
  • Y chromosome material
What are the symptoms of Turner syndrome?

The signs and symptoms of Turner syndrome in females may vary.

  • Before birth – abnormal fluid collection at the back of neck, heart & kidney abnormalities
  • Infancy – swollen hands & feet at birth, small height, delayed growth, web-like wide neck, small lower jaw, low set ears, low hairline at the back of head, short fingers & toes with nails turned upwards, broad chest with nipples widely apart
  • Teens and young women – lack of growth spurts, short stature, inability to learn spatial concepts/maths, problems with understanding social situations, no sexual changes during puberty, stoppage to sexual development during teenage years, menstrual cycle ends soon, infertility
How can Turner syndrome be treated?
Turner syndrome can be treated by:
  • Growth hormone
  • Estrogen therapy
  • Fertility treatment
  • Psychological therapy