Turner syndrome

Female genetic disorder

HCA UK experts diagnose and manage a range of genetic conditions, including Turner syndrome. Find out more

About turner syndrome

Turner syndrome (also known as TS) is a condition that occurs as a result of a chromosome (DNA) abnormality in females. It is caused by the complete or partial deletion of the X chromosome and occurs in approximately one in every 2000 births.

Rather than having two X chromosomes, a girl with Turner syndrome only develops one in the womb.

Need to know

  • Symptoms of Turner syndrome icon plus

    Girls with Turner syndrome usually have a range of distinctive characteristics.

    The most common symptoms of Turner syndrome are:

    • shorter than average height
    • lack of monthly periods (menstruation)
    • infertility problems due to underdeveloped ovaries

    Other symptoms vary between individuals but can include being born with swollen hands and feet, a short, wide neck (webbed neck), low hairline, heart and kidney problems and behavioural, social and learning difficulties.

    Most girls won’t be diagnosed with Turner syndrome until they go through puberty (reach sexual maturity), usually between the ages of eight and 14.

  • Diagnosis icon plus

    Turner syndrome is often discovered in ultrasound scans during pregnancy, if heart or kidney abnormalities are detected. There is no cure for Turner syndrome, but your GP or consultant will discuss the condition with you and how the symptoms can be managed.

    To diagnose Turner syndrome, your consultant may do a test known as Karyotyping. This analyses the 23 pairs of chromosomes. This is either carried out while your baby is inside the womb by taking a sample of amniotic fluid (amniocentesis) or after you’ve given birth by taking a sample of your baby’s blood.
  • Potential treatment options icon plus

    Treatment options for Turner syndrome depends on the extent of the condition. Regular health checks, preventative care and treatment are important because of the risk of complications.

    Girls with Turner syndrome may be under the care of the following specialists and consultants from birth:

    • An endocrinologist (specialising in hormones)
    • A gynaecologist (specialising in infertility issues)
    • A psychologist (to assist with special learning difficulties)

    With growth hormone treatment or use of anabolic steroids (synthetic hormones) it is possible to grow taller.

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This content is intended for general information only and does not replace the need for personal advice from a qualified health professional.
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