Living with Turner syndrome
A chromosome condition in females in which one X chromosome is missing or changed, often causing short height and ovary differences.
Understanding Turner syndrome
The most common feature is short height, clear by about age 5. The ovaries often do not work fully, so many girls do not go through puberty without hormone therapy, and most cannot become pregnant naturally. About 30 percent have a webbed neck, a low hairline, swelling of the hands and feet, bone differences, or kidney problems. One-third to one-half are born with a heart defect. Most people have normal intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Ovaries that don't work fully (gonadal dysgenesis)
- Delayed puberty and infertility
- Broad or webbed neck
- Heart differences
- Kidney differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Association for X and Y Chromosome Variations, Turner Syndrome Foundation and Turner Syndrome Global Alliance may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Association for X and Y Chromosome Variations, Turner Syndrome Foundation, Turner Syndrome Global Alliance
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Association for X and Y Chromosome Variations and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by one X chromosome being missing or altered in a female's cells.
Also known as: 45,x gonadal dysgenesis; 45,x syndrome; 45,x/46,xx syndrome; 45,x0 syndrome; 45x syndrome; gonadal dysgenesis - turner
Patient organizations
- Association for X and Y Chromosome VariationsTurner syndrome · United States
- Turner Syndrome FoundationTurner syndrome · United States
- Turner Syndrome Global AllianceTurner syndrome · United States
- Turner Syndrome Society of the United StatesTurner syndrome · United States
- Little People of AmericaTurner syndrome · United States
- Chromodiversity FoundationTurner syndrome · Human Growth Foundation
- The MAGIC FoundationTurner syndrome · United States
- Turner Syndrome CarolinasTurner syndrome · Turner Syndrome Colorado
You are more than your diagnosis
Perspectives from people navigating life with Turner syndrome.
Explore research for Turner syndrome
Explore actively recruiting Turner syndrome studies with HealthSpark.
Find actively recruiting studies for Turner syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Turner syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Turner syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Turner syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.