Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.
About Turner Syndrome
Turner syndrome is a genetic disorder that affects a girl's development and appearance. It can also cause health problems such as infertility and heart problems.
Turner syndrome can cause many different symptoms. The symptoms may be mild for some people. But for others, Turner syndrome can cause serious health problems.
Some of the symptoms of Turner syndrome affect a person's appearance. Most people with Turner syndrome are shorter than average. They may also have physical features such as:
- A neck that is short and has extra skin (a "webbed" neck)
- A low hairline in the back
- Low-set ears
- Swollen hands and feet
People with Turner syndrome may be born with heart and kidney defects. They usually don't have typical sexual development and are infertile. They are also at risk for other health problems such as high blood pressure, type 2 diabetes, osteoporosis, and thyroid problems.
Health care providers diagnose Turner syndrome based on symptoms and a genetic blood test called a karyotype test. Sometimes it is found in prenatal testing.
There is no cure for Turner syndrome, but there are treatments for some of the symptoms:
- If they are started in early childhood, hormone injections can often increase adult height by a few inches
- Estrogen replacement therapy (ERT) can help start sexual development. It also protects against bone loss
- Assisted reproduction technologies can help some women with Turner syndrome get pregnant
People who have Turner syndrome need regular health checks. It's also important for them to have a care team that includes specialists who can treat the health problems caused by Turner syndrome.
It sits within Genetics/Birth Defects and Endocrine System.
The lead U.S. institute for this subject is the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.
Research on Turner Syndrome
153 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.
What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.
Research currently under way
- Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient DisordersAscendis Pharma A/S
- Natural History of Noncirrhotic Portal HypertensionNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- A Multiple Baseline Feasibility Trial of Social Management Training for People With Sex Chromosome AneuploidiesUniversity of Oslo
- The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome (TS) and Short StatureXiamen Amoytop Biotech Co., Ltd.
- Long-term Safety and Effectiveness of Growtropin®-II Treatment in Children With Short StatureDong-A ST Co., Ltd.
- Parent and Infant Inter(X)Action Intervention (PIXI)RTI International
Research already completed
- Open-Label Extension Study of SetmelanotideRhythm Pharmaceuticals, Inc.
- The Clinical Study of Sex Chromosome VariantsNational Human Genome Research Institute (NHGRI)
- Efficacy and Safety of Exenatide in the Treatment of Hypothalamic Obesity After Craniopharyngioma TherapyUniversity Hospital, Bordeaux
- A Study to Assess Efficacy and Safety of LB54640 in Patients With Hypothalamic ObesityRhythm Pharmaceuticals, Inc.
Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.
Where to read more
Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.
Start Here
- About Turner SyndromeTurner Syndrome Society of the United States
- About Turner SyndromeNational Human Genome Research Institute
- Other Turner Syndrome: FAQsEunice Kennedy Shriver National Institute of Child Health and Human Development
- Turner SyndromeEunice Kennedy Shriver National Institute of Child Health and Human Development
- Turner SyndromeMayo Foundation for Medical Education and Research
Symptoms
- What Are the Symptoms of Turner Syndrome?Eunice Kennedy Shriver National Institute of Child Health and Human Development
Diagnosis and Tests
- How Do Health Care Providers Diagnose Turner Syndrome?Eunice Kennedy Shriver National Institute of Child Health and Human Development
Treatments and Therapies
- What Are Common Treatments for Turner Syndrome?Eunice Kennedy Shriver National Institute of Child Health and Human Development
Living With
- Turner Syndrome: A Guide for FamiliesTurner Syndrome Society of the United States
Genetics
- Turner syndrome: MedlinePlus GeneticsNational Library of Medicine
Clinical Trials
- ClinicalTrials.gov: Turner SyndromeNational Institutes of Health
Medical subject headings
Clinicians and researchers index this subject under Turner Syndrome. These are the terms to use when searching medical literature.
This page is built from the MedlinePlus health topic record for Turner Syndrome, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.