Turner Syndrome

Turner syndrome occurs when a female has a single X chromosome, making them 45 XO. The O referrs to an empty space where the other X chromosome should be. Life expectancy is close to normal.

 

Features

  • Short stature
  • Webbed neck
  • High arching palate
  • Downward sloping eyes with ptosis
  • Broad chest with widely spaced nipples
  • Cubitus valgus
  • Underdeveloped ovaries with reduced function
  • Late or incomplete puberty
  • Most women are infertile

Cubitus valgus refers to an abnormal feature of the elbow. When the arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body.

TOM TIP: The three classic features to remember and look out for in exams are short stature, webbed neck and widely spaced nipples.

 

Associated Conditions

  • Recurrent otitis media
  • Recurrent urinary tract infections
  • Coarctation of the aorta
  • Hypothyroidism
  • Hypertension
  • Obesity
  • Diabetes
  • Osteoporosis
  • Various specific learning disabilities

 

Management

There is no way to treat the underlying genetic cause of Turner syndrome. Treatment aims to help with the symptoms of the condition:

  • Growth hormone therapy can be used to prevent short stature
  • Oestrogen and progesterone replacement can help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis
  • Fertility treatment can increase the chances of becoming pregnant

Patients need monitoring for the associated conditions and complications. Treatable conditions such as hypertension and hypothyroidism should be managed appropriate.

 

Last updated January 2020
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