Turner syndrome

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.

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.

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.