What is Turner syndrome?

Turner syndrome is a genetic disorder that affects females. It might cause problems with hearing, vision and fertility. It does not usually affect intellectual ability. Treatment with hormones can help manage some of the problems.

Turner syndrome is caused by a genetic abnormality in one of the 2 sex chromosomes. It affects about 1 in every 2000 females born each year. It is also known as 45X, monosomy X and Ullrich-Turner syndrome.

What are the symptoms of Turner syndrome?

People with Turner syndrome are often short in height. Infertility is also common, as the ovaries may not develop properly. This can affect puberty and lead to a lack of menstruation (amenorrhea). It can also prevent the development of secondary sexual characteristics such as breast development and growth of body hair. The severity of symptoms varies among individuals, and some people experience more symptoms than others.

Newborns with Turner syndrome may experience:

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

People with Turner syndrome may also experience:

• 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 doesn't usually affect intelligence, but some people with Turner syndrome have lower emotional maturity, problems with memory or challenges with non-verbal or spatial learning.

What causes Turner syndrome?

Turner syndrome is a genetic disorder. This means there has been a change in the person's DNA. Normally, females have two X chromosomes in each cell. Turner syndrome occurs when one of these X chromosomes is partially or completely missing. This change in DNA can affect the child's development.

There is usually no known cause, and is rarely genetically inherited. There is nothing that you did during your pregnancy to cause Turner syndrome in your child.

How is Turner syndrome diagnosed?

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, when reproductive health issues lead them to see a doctor.

Genetic testing can also be performed 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. Read more about questions to ask about tests and scans on the Pregnancy, Birth and Baby website.

You might also consider genetic carrier screening for Turner syndrome when planning a pregnancy.

What are the treatments for Turner syndrome?

Growth hormone treatment can help bone growth and improve height. Treatment is usually started at around 4 to 6 years of age if the child is not growing as expected.

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

You may need further treatment if you have other problems associated with Turner syndrome including heart, kidney or liver issues. Some people may need surgery to correct any heart defects.

Living with Turner syndrome

With the appropriate care and support, someone 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 for reducing the risk of heart disease.

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

• regular dental appointments
• annual skin assessments
• blood tests to monitor hormone levels and screen for complications

What are the complications of Turner syndrome?

Turner syndrome can increase the risk of other health issues such as:

• type 2 diabetes
• high cholesterol levels
• 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 experience 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
• osteoporosis
• low thyroid hormone
• coeliac disease or gluten intolerance
• bowel diseases

Your healthcare team may monitor you for these conditions.

Resources and support

• The Turner Syndrome Association of Australia provides information, resources and support to connect people in Australia diagnosed with Turner syndrome.
• You can access growth charts on the ANZSPED website to monitor your child's growth and development.
• The Genetic Support Network of Victoria can help you to find support groups and health professionals to provide the best care for you.
• Genetic Alliance Australia has a list of resources and support groups.