Bonnevie-Ullrich syndrome - Treating Turner syndrome

There is no cure for Turner syndrome, but many of the associated symptoms can be treated.

Health checks

Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications.

Some hospitals have dedicated Turner syndrome clinics with a number of specialists including:

• an ear, nose and throat (ENT) specialist – who will monitor the ears with regular hearing assessments  
• a paediatric endocrinologist – a specialist in conditions that affect hormones and metabolism (the process that turns food into energy) in children and teenagers
• an adult endocrinologist – a specialist in conditions that affect hormones and metabolism in adults 
• a cardiologist – a heart specialist
• an obstetrician – a specialist in pregnancy and birth
• a gynaecologist – a specialist in treating conditions that affect the female reproductive system

If a girl or women is diagnosed with Turner syndrome, the following areas may be monitored throughout her life. 

Hearing and ears

During childhood, middle ear infections (otitis media) are more likely to develop and need to be treated quickly. About half of all women with Turner syndrome lose their hearing at a faster rate compared with normal age-related decline.

Blood pressure 

High blood pressure (hypertension) is quite common in women with Turner syndrome, so it's important that blood pressure is regularly checked and treated, if necessary.

Thyroid gland

Thyroid function tests can be used to assess how well your thyroid gland is working, as there is also a slightly higher risk of having an underactive thyroid (hypothyroidism). 

Glucose levels

The glucose levels in your blood or urine may be checked to screen for diabetes (a lifelong condition that causes your blood sugar level to become too high).

Bone mineral density (BMD)

Women with Turner syndrome have an increased risk of developing osteoporosis (brittle bones). Your bone mineral density can be measured using a dual energy X-ray scan, which is usually known as a DEXA scan.

If you are diagnosed with any of the above conditions, you will be given appropriate treatment.

Growth hormone therapy

An endocrinologist (specialist in hormone-related conditions) will be able to carry out tests and checks on a regular basis. They will also be able to recommend appropriate treatment, such as growth hormone therapy.

Growth hormone therapy should be given to a girl with Turner syndrome as soon as it becomes apparent that she is not growing normally. It will help prevent short height during adulthood.

Growth hormone therapy is usually started around five or six years of age. However, it may be started later. Growth hormone therapy will usually continue until the girl is 15 or 16 years of age.

Read more about growth hormone therapy.

Somatropin

The National Institute for Health and Care Excellence (NICE) has produced guidance about somatropin, the growth hormone sometimes used to treat Turner syndrome.

There are a number of different types of somatropin available. The type used will be based on the needs of the individual following a discussion with the specialist, including any advantages and disadvantages of the treatment.

Treatment with somatropin should be stopped if: 

• there is not enough growth in the first year of treatment 
• the girl is near to her final height and has grown less than 2cm (0.8in) in a year 
• the girl is unable to continue taking the medicine due to side effects
• the girl reaches her final height

Somatropin is usually given daily as a single injection. Parents can  the injection or the girl can be taught to do it herself. The dose will depend on the girl’s size.

Read more about the side effects of somatropin

The studies reviewed by NICE found that somatropin increased height by around 5-9cm (2-3.5in).

Oestrogen and progesterone replacement therapy

An endocrinologist may also recommend oestrogen and progesterone replacement therapy.

Oestrogen and progesterone are the female hormones responsible for sexual development. Oestrogen is also important in preventing osteoporosis (brittle bones).

In girls with Turner syndrome, the sex hormones do not work properly and the ovaries (the female reproductive organs) do not produce enough oestrogen. 

Women with Turner syndrome will usually need regular sex hormone treatment until about 50 years of age. After this time, the body usually stops producing oestrogen and monthly periods stop. This is known as the menopause.

Oestrogen

Oestrogen replacement therapy is usually started at the time of normal puberty or just after. In girls, this is around 11 years old. It may be recommended oestrogen is started between the ages of 12 and 15, because starting treatment too early may reduce the final height the girl is able to grow to.

Oestrogen can trigger the changes that usually happen during puberty, such as breast development, which, otherwise, girls with Turner syndrome may not experience.

Oestrogen can be given as a tablet, patch or injection. Low doses are used to start with before being gradually increased until the girl’s oestrogen levels become normal.

Progesterone

Progesterone replacement therapy is usually started slightly later than oestrogen and can help encourage a girl's monthly periods to start.

Fertility

Most women with Turner syndrome are infertile (unable to have children). A minority will be able to coneive naturally, so girls and women with Turner syndrome should have access to sexual health and contraception advice.

Assisted conception techniques, such as in vitro fertilisation (IVF), may be recommended for women with Turner syndrome who want to have children.

If a woman has Turner syndrome and becomes pregnant, she will need regular heart checks because the heart and blood vessels will be put under extra strain during pregnancy.

Psychological therapy

Some girls and women with Turner syndrome may develop psychological problems, such as low self-esteem or depression.

Doctors sometimes attribute these problems to physical appearance or infertility, but they are more commonly related to difficulties understanding other people’s social behaviour and how to respond appropriately. Associated problems commonly arise at home, in school and in the workplace.

Psychological therapy, such as counselling or cognitive behavioural therapy (CBT), may be recommended.

Learning difficulties

Most girls with Turner syndrome have a normal level of intelligence, but some may have learning difficulties and require extra tuition at school or home.

It's important to seek help if your daughter is affected. Not all aspects of ability are affected equally so an experienced psychologist should be asked to give an opinion.

You can speak to your GP or health visitor, or the teacher at your child’s school or nursery. The school or nursery should follow guidelines about how to assess and meet your child’s special educational needs to ensure she gets the appropriate support.

Read more about learning disabilities and education.