What is Turner syndrome?

Turner syndrome is a genetic disorder that affects approximately 1 in 2500 girls born in Australia each year. It is also known as 45,X, monosomy X and Ullrich-Turner syndrome. It does not affect men or boys.

What causes Turner syndrome?

Normally, a female has 2 X chromosomes in each cell. Turner syndrome occurs when all or part of 1 X chromosome is missing. This is also known as monosomy. It can affect development before and after birth.

Turner syndrome symptoms

Girls and women who have Turner syndrome are affected in different ways. Short stature and infertility (due to underdeveloped ovaries) are the main features of Turner syndrome.

Girls with Turner syndrome might also have some or all of the following problems:

• difficulty feeding in infancy
• problems with hearing or eyesight
• problems with coordination
• puffiness of the hands and feet
• slower sexual development
• problems with the heart, arteries or kidneys

Turner syndrome diagnosis

Turner syndrome might be suspected due to symptoms, but the diagnosis needs to be confirmed by genetic testing. It is possible to test for Turner syndrome before a baby is born if the ultrasound or other prenatal tests show signs of Turner syndrome.

Sometimes a girl can have Turner syndrome and not have the condition diagnosed until childhood or puberty.

Living with Turner syndrome

Someone who has been diagnosed with Turner syndrome will need to have medical checks to make sure they are staying healthy and will need hormones to replace those that normally come from the ovaries.

If a woman with Turner syndrome wants to have children, she will probably need some help with her fertility.

Turner syndrome increases the risk of some other medical conditions such as:

• coeliac disease or gluten intolerance
• bowel diseases
• diabetes
• low thyroid hormone
• osteoporosis

Doctors may want to check for these conditions.

Someone with Turner syndrome may have some mild learning difficulties, and may require some extra help.

However, most women and girls with Turner syndrome have normal intelligence and a normal lifespan.