Conditions & syndromes · England
Understanding Turner syndrome
Your browser or device provides the reading voice.
Turner syndrome is a condition you are born with.
It mainly affects girls and women.
You can read this with someone you trust.
What it means
Chromosomes carry information that helps your body develop.
With Turner syndrome, some X chromosome information is missing.
It affects each person differently.
Turner syndrome usually happens by chance.
It is not because a parent did something wrong.
A blood test can help doctors confirm the diagnosis.
Ask someone to explain your result clearly.
Your health
You may need checks on your heart, hearing and other parts of your health.
Ask which checks you need and when.
You may need treatment to help with growth or puberty.
Your doctor should explain your choices.
Learning and support
Most people with Turner syndrome do not have a learning disability.
Some people need help with particular parts of learning.
Tell people what helps you.
You can ask private questions about periods, relationships or having children.
Ask for specialist advice before planning a pregnancy.
You can ask for help with worry or difficult feelings.
Your wishes and goals matter.
Keeping care going
Health checks continue in adult life.
Ask who will help organise your care.
The Turner Syndrome Support Society can help you find information and support.
What you can do next
Ask about your own health checks and support needs.
Ask for information in a way you understand.
Read NHS information about Turner syndrome Web pageThis link opens another website.
It may use harder words.
More useful links
- NHS: Turner syndrome Web page
An overview of symptoms, testing, treatment and support.
- Turner Syndrome Support Society Web page
UK information, publications and opportunities to connect with others.
- Turner Syndrome Support Society: guidance and health checklist Web page
Patient and family guidance, clinical guidance and a health checklist.
- Leeds NHS: Turner syndrome Web page
An explanation from a regional NHS genetics service. Local contact details apply to that service.
These links open other websites.
They may use harder words.
Turner syndrome
Understand Turner syndrome, individual health checks, learning needs and support through childhood and adult life.
Children and adults · England · General information
What Turner syndrome means
Chromosomes are packages of genetic information inside our cells. Turner syndrome mainly affects girls and women. All or part of one X chromosome is missing in some or all cells. In mosaic Turner syndrome, different cells have different chromosome patterns. The effects vary, including within the same chromosome pattern. It usually happens by chance, rather than because of something a parent did. A genetics team can explain the particular result and any family implications.
Finding out about the condition
The condition may be recognised during pregnancy, in childhood or later. Slower growth or puberty that has not started can lead to investigations. A blood test that looks at chromosomes can confirm the diagnosis after birth. Ask the GP or existing specialist about referral if there are concerns. During pregnancy, screening and diagnostic testing have different purposes. The maternity or genetics team should explain available tests, choices and what results can and cannot show.
Plan individual health checks
Some people have heart, kidney or hearing problems. Blood pressure, thyroid function, blood sugar and bone health may also need monitoring. Not everyone develops every problem. Ask the specialist to record which checks are needed, when they are due and who will arrange them. Care often involves an endocrinologist, a doctor who specialises in hormones, alongside other specialists. Hearing difficulties should be assessed rather than mistaken for lack of attention or understanding.
Growth and puberty
Many people with Turner syndrome are shorter than average. A children's hormone specialist may discuss growth treatment. The ovaries may not produce the hormones usually needed for puberty. Hormone treatment may be offered to support puberty and longer-term health. Some people with mosaic Turner syndrome start puberty without treatment. Ask for a personal explanation of benefits, possible side effects and review arrangements. Decisions should involve the young person in a way they understand.
Learning and everyday support
Turner syndrome does not usually cause a learning disability. Some people find particular tasks harder, including maths, understanding spaces and shapes, coordination or social situations. Needs differ, and hearing problems can add difficulties. Ask for assessment of the actual difficulty and suitable support at school, college or work. A diagnosis should not be used to assume what someone can do. Build on strengths and check whether written instructions, extra time or another adjustment helps.
Fertility and pregnancy choices
Fertility is often reduced, but it is not the same for everyone. Some people can become pregnant naturally, and specialist fertility advice may identify other options. Pregnancy can carry significant heart and blood-pressure risks. Ask the hormone and heart specialists for advice before trying to become pregnant, including through fertility treatment. Normal heart tests do not remove every risk. Hormone replacement therapy is not contraception. Ask for private, sensitive information that respects your wishes.
Emotional wellbeing and taking part
A diagnosis, differences in growth or puberty, and fertility questions can bring difficult feelings. Support may include counselling or help from others with Turner syndrome. Ask for help if worry or low mood is affecting everyday life. Give the person space to ask questions privately as well as with family. Discuss the activities, relationships, education and work that matter to them, rather than making medical appointments the whole focus of support.
Keep support going into adult life
Agree how care will move from children's to adult services before the transfer happens. Ask for a named contact, a written plan and clear arrangements for ongoing monitoring. The Turner Syndrome Support Society offers information and contact with other people affected by the condition. Its patient and family guidance and health checklist can help prepare questions. Use these alongside the person's individual NHS care plan, rather than setting the same treatment or appointment schedule for everyone.
Words you could use
“Please explain my chromosome result, the health checks I need, and what support could help with my own goals.”
More useful links
- NHS: Turner syndrome Web page
An overview of symptoms, testing, treatment and support.
- Turner Syndrome Support Society Web page
UK information, publications and opportunities to connect with others.
- Turner Syndrome Support Society: guidance and health checklist Web page
Patient and family guidance, clinical guidance and a health checklist.
- Leeds NHS: Turner syndrome Web page
An explanation from a regional NHS genetics service. Local contact details apply to that service.
These links open other websites.
They may use harder words.
Where the information comes from
Links checked 9 November 2026.
These links open other websites.
They may use harder words.
- NHS: Turner syndrome Web page
Chance occurrence, variable needs, learning, puberty, treatment and emotional support.
- NHS Genomics Education: Turner syndrome Web page
Missing or changed X chromosome, mosaic forms, diagnostic testing and rare family implications.
- Leeds Teaching Hospitals: Turner syndrome Web page
Variation in age at diagnosis, specific learning difficulties, puberty and individual clinical care.
- Turner Syndrome Support Society: treatment Web page
Individual care, hearing, blood pressure, thyroid and diabetes checks, bone health and transition.
- Cambridge University Hospitals: cardiac surveillance in Turner syndrome Web page
Pregnancy-related cardiovascular risks, specialist pre-pregnancy advice and HRT not being contraception.
- Turner Syndrome Support Society: guidelines Web page
Patient and family information and the paediatric and adult health checklist.
- Turner Syndrome Support Society Web page
The UK charity's information, support and social connections.