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Feature Article

Turner syndrome: managing a multisystem disorder

Shubha Srinivasan

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Abstract

Turner syndrome may present in females at any age and with a range of different features. A multidisciplinary healthcare team co-ordinated by the general practitioner and general paediatrician is key to providing appropriate surveillance and management of patients with Turner syndrome.

Key Points

  • Affecting about one in 2500 live female births, Turner syndrome is caused by the chromosomal abnormality 45,X or mosaicism with 45,X.
  • Turner syndrome may present in females of any age. In newborns, webbed neck, lymphoedema and coarctation of the aorta are common presentations. During childhood and the teenage years, short stature and delayed puberty may become apparent.
  • Turner syndrome is a disorder that may affect many organ systems to varying degrees and at different stages of life.
  • A multidisciplinary approach to management and regular surveillance throughout life is essential for the wellbeing of patients with Turner syndrome.

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