Turner syndrome

Turner syndrome is a genetic disorder that affects females from birth. In Turner syndrome, one of the two X chromosomes is partly or completely missing. It affects about 1 in every 2000 females born each year. It is also known as 45X, monosomy X and Ullrich-Turner syndrome.

Turner syndrome might cause problems with hearing, vision and fertility (Opens in new tab). It does not usually affect intellectual ability. Treatment with hormones can help manage some of the problems.

There are many other characteristics of Turner syndrome. The severity of these characteristics varies between people. Some people have more than others.
Turner syndrome doesn't usually affect intelligence, but some people with Turner syndrome have lower emotional maturity, or challenges with non-verbal or spatial learning like mathematics.

People with Turner syndrome are usually about 20 centimetres shorter than average. 

Nearly all people with Turner syndrome have ovaries that are underdeveloped. This means that they don’t start puberty or get their period spontaneously. It can also mean that they don’t develop breasts or body hair. 

Many people with Turner syndrome will have affected fertility and have trouble becoming pregnant.  

Newborns with Turner syndrome may have:

• puffiness of the hands and feet
• difficulty feeding
• slow growth

People with Turner syndrome may also have:

• problems with hearing or eyesight
• problems with coordination
• slower or delayed sexual development
• prominent skin folds on the neck
• problems with the heart, liver or kidneys

Turner syndrome is a genetic disorder where one of the X chromosomes is partially or completely missing.

There is usually no known cause of Turner syndrome but in some cases it may be inherited. There is nothing that you did during your pregnancy to cause Turner syndrome in your child.

Turner syndrome might be suspected if a young child shows typical symptoms. To confirm the diagnosis, a doctor will refer your child for genetic testing using a blood sample.

Sometimes a person might not be diagnosed with Turner syndrome until later in life, for example, around puberty, if they have delayed puberty or periods.

Genetic testing can also be done before birth if an ultrasound or other non-invasive prenatal test shows signs of Turner syndrome.

Genetic testing during pregnancy is optional and should be discussed with your doctor, midwife or genetic counsellor (Opens in new tab). Read more about questions to ask about tests and scans (Opens in new tab) on the Pregnancy, Birth and Baby website.

Each person with Turner syndrome is different and can require different treatments. 

Growth hormone treatment can help bone growth and improve height. 

Hormone therapy with oestrogen may also be used to start and maintain puberty, if the ovaries aren't producing enough oestrogen. Hormone therapy is generally continued until the age of menopause.

You may need more treatment if you have other health problems linked to Turner syndrome. These can include heart, kidney or liver issues. Some people may need surgery to correct any heart defects.

With the right care and support, a person with Turner syndrome can have a healthy and productive life.

You should have regular medical check-ups to make sure you stay healthy. Different people will have different health needs. Some health care teams may include hearing or eye specialists or occupational therapists.

Everyone with Turner syndrome can benefit from a healthy diet and exercise. This is particularly important to lower the risk of heart disease.

It is also important to have regular screening and testing for the symptoms that could develop as a part of Turner syndrome, including:

• regular dental appointments
• annual skin checks
• blood tests to check hormone levels

Turner syndrome can increase the risk of other health issues like:

• type 2 diabetes
• high blood pressure
• middle ear and urinary infections
• congenital heart defects

Most people with Turner syndrome have normal intelligence and a normal life expectancy. Some may have specific learning difficulties and mental health challenges. It's a good idea for you or your child to see your health team regularly, so they can monitor your cognitive development and mental health and offer support if needed.

Many people with Turner syndrome have trouble becoming pregnant. Speak to your doctor to find out more about fertility treatments.

Less common complications include:

• hearing loss
• low thyroid hormone
• coeliac disease or gluten intolerance
• bowel diseases

Your healthcare team may monitor you for these conditions.

The Turner Syndrome Association of Australia (Opens in new tab) provides information, resources and support to connect people in Australia diagnosed with Turner syndrome.

You can access growth charts on the ANZSPED website (Opens in new tab) to monitor your child's growth and development.

The Genetic Support Network of Victoria (Opens in new tab) can help you to find support groups and health professionals.

Genetic Alliance Australia (Opens in new tab) has a list of resources and support groups.