Turner Syndrome
Also known as: Mosaicism, 45, X or other cell line with abnormal sex chromosome
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In short
Turner syndrome is a genetic disorder caused by a partially or completely missing X chromosome that affects a girl's development and appearance. Symptoms can include shorter than average height, a short and webbed neck, low-set ears, swollen hands and feet, heart and kidney defects, lack of typical sexual development, and infertility. Diagnosis is based on symptoms and a genetic blood test called a karyotype test, or sometimes through prenatal testing. While there is no cure, treatments include hormone injections to increase adult height, estrogen replacement therapy to help start sexual development and protect against bone loss, and assisted reproduction technologies.
Source: MedlinePlus, National Library of Medicine.
AI-generated summary of the sources cited on this page, checked automatically against them. Not reviewed by a clinician; not medical advice.
Codes
Description
What is 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.
What causes Turner syndrome?
Turner syndrome happens because of a problem with a chromosome. Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works. Normally, girls receive one X chromosome from each parent. Turner syndrome happens when one of the X chromosomes is partially or completely missing.
What are the symptoms of Turner syndrome?
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.
How is Turner syndrome diagnosed?
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.
What are the treatments for Turner syndrome?
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.
NIH: National Institute of Child Health and Human Development
Related terms in the cited sources
Medicines with an official indication for this condition
- Somatropin Treatment
In alphabetical order.
Next to it in ICD-10
- Q61Polycystic and cystic kidney disease
- Q75Other congenital skull and face bone malformations
- Q90Down Syndrome
- S02Skull and facial bone fractures
- S06Brain injury (including concussion)
- S07Crush injury of the head
Neighbouring codes in the classification, not a medical link.
External resources
Questions
What is the ICD-10 code for Turner Syndrome?
Q96 (WHO, International Classification of Diseases, 10th Revision).
What is the ICD-11 code for Turner Syndrome?
LD50.04: Mosaicism, 45, X or other cell line with abnormal sex chromosome (WHO, ICD-11 for Mortality and Morbidity Statistics).
Sources and attribution
- ICD-11 for Mortality and Morbidity Statistics, © World Health Organization, licensed under CC BY-ND 3.0 IGO.
- Source: MedlinePlus, National Library of Medicine.
- Names other than the official source titles: Anpheros translations and plain-language names, made with AI assistance and checked automatically; the source names are in English.
- Source: European Medicines Agency (EMA) — EPAR. © European Medicines Agency.
- ICD-10 codes and titles © World Health Organization. Source: WHO, International Classification of Diseases, 10th Revision (2019).
Anpheros Search catalog 2026.10.5, published 17 October 2026. About the data →
About this page. This page brings together public information from official sources, each cited where it is used. It is not medical advice, it is not a diagnosis, and it does not tell you which treatment to take.
Treatments. Indications are quoted unchanged from official product information (European Medicines Agency, U.S. Food and Drug Administration). They describe what a medicine is approved for, not whether it is right for you. Approved uses can differ between countries. Always read the package leaflet and follow your doctor's or pharmacist's advice.
What people report. Figures marked "reported by Anpheros users" are anonymous counts from at least 20 people who agreed to share them. They show what people report, not what works, and they are not clinical evidence.
Links between terms. "May be associated with" means the link appears in a cited source. It does not mean you have that condition.
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