Turner syndrome

What is Turner syndrome?

Turner syndrome is a chromosomal abnormality that only affects girls. We do not know what causes Turner syndrome. It appears to be a random event that could happen in any pregnancy (BSPED 2011).

Females normally have two X chromosomes. Girls who have Turner syndrome have one of their X chromosomes either completely or partially missing (NHS Choices 2013).

Some girls and women have health problems which vary, but most women with Turner syndrome lead normal, healthy lives. They are shorter than average height and their ovaries do not function normally. This means they do not start their periods or develop breasts unless they have hormone treatment (BSPED 2011).

There are some other physical characteristics but they are usually minor and vary greatly between individuals (BSPED 2011, NHGRI 2013).

Most girls with Turner syndrome have good language and reading skills. However, some girls with Turner syndrome have some behavioural, social and specific learning difficulties (NHGRI 2013, NHS Choices 2013).

How common is Turner syndrome?

The condition is very rare, affecting one girl in every 2,000 (NHS Choices 2013).

When is Turner syndrome diagnosed?

Some girls are diagnosed in early childhood, or around the age when puberty would normally happen. Sometimes they are diagnosed before birth, as an ultrasound scan can show up some of the physical characteristics of Turner syndrome. This can be confirmed with a diagnostic test such as chorionic villus sampling (CVS) or amniocentesis (NHS Choices 2013).

Is there any treatment for Turner syndrome?

There isn't a cure for Turner syndrome, but there are treatments available for some of the main symptoms (NHS Choices 2013).

If your daughter has Turner syndrome she will be under the care of a growth specialist (paediatric endocrinologist). She should have treatment with growth hormones from the time she is five years old until she is 16 to help her to reach an adult height (NHS Choices 2013).

When your daughter reaches the age of puberty she can have sex hormone (oestrogen and progesterone) treatment. These female hormones will help to trigger the changes that usually happen with puberty, such as monthly periods and breast development (NHS Choices 2013). Fertility treatments such as IVF using donated eggs can help some women with Turner syndrome to become pregnant (NHS Choices 2013).

Where can I get help and support?

Last reviewed: June 2015


BSPED. 2011. Turner syndrome. British Society for Paediatric Endocrinology and Diabetes. [pdf file, accessed June 2015]

NHGRI. 2013. Learning about Turner syndrome. National Institutes of Health. National Human Genome Research Institute. [Accessed June 2015]

NHS Choices. 2013. Introduction: Turner syndrome. Health A-Z. [Accessed June 2015]

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