What is Turner syndrome?

Turner syndrome is a genetic disorder affecting some 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 a genetic disorder. This means there has been a change in the person’s DNA. Normally, a female has two X chromosomes in each cell. Turner syndrome happens when all or part of one of these X chromosomes is missing. The change in DNA can affect the child’s development.

Turner syndrome affects about 1 in every 2,500 females born each year. It is also known as 45X, monosomy X and Ullrich-Turner syndrome. It does not affect people assigned male at birth.

What are the symptoms of Turner syndrome?

People with Turner syndrome are often short in height. They sometimes have infertility. This is due to their ovaries not developing properly.

Females with Turner syndrome might also have some or all of the following health issues:

• 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, liver or kidneys

How is Turner syndrome diagnosed?

Turner syndrome might be suspected if a young child has symptoms. A doctor needs to arrange for genetic testing to find out if the child has Turner syndrome.

A test for Turner syndrome can also be done before birth. This might be organised if an ultrasound or other prenatal test shows signs of Turner syndrome.

Sometimes a person might not be diagnosed with Turner syndrome until they are older. Problems with fertility might be the first reason someone sees a doctor.

Living with Turner syndrome

Someone with Turner syndrome will need regular medical check-ups to make sure they stay healthy. Different people will have their own needs for health care. Some health care teams may include hearing or eye specialists or occupational therapists.

What are the treatments for Turner syndrome?

Growth hormone treatment can help bone growth and improve height.

Hormone therapy (oestrogen) may also be used to start puberty. The hormones are given to replace those that normally come from the ovaries.

People at risk for ischaemic heart disease might be treated with statins.

Everyone with Turner syndrome can benefit from a healthy diet and exercise.

What are the complications of Turner syndrome?

Turner syndrome increases the risk of some other health issues such as:

• type 2 diabetes
• high cholesterol levels
• high blood pressure
• differences in the way you think and reason

Most females (90%) with Turner syndrome have normal intelligence and a normal lifespan. Some may have specific learning difficulties and mental health challenges.

If someone with Turner syndrome wants to have children, they will probably need some help with their fertility.

Less common complications include:

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

Doctors may check you for these conditions.