Rare disease
Turner Syndrome
Clinical trials recruiting in Australia for Turner Syndrome, a rare disease, as the public registries list them.
Also called: 45,X syndrome; 45,X/46,XX syndrome; Turner's syndrome; Monosomy X; Ullrich-Turner syndrome; 45,X
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At a glance
No trials recruiting in Australia right now.
36 trials recruiting overseas
1-5 / 10 000 (Point prevalence, Europe, Not yet validated) prevalence
Antenatal; Childhood; Infancy; Neonatal age of onset
16 October 2026 date last checked
Trials overseas
This is where the research for Turner Syndrome is happening right now. Nothing is recruiting in Australia, so the overseas record is the useful one.
36 trials for this disease are open to new participants outside Australia, as ClinicalTrials.gov listed them on 11 October 2026. Voxsanity does not publish a page for any of them; the searches below reach them at the registry.
These overseas counts are likely too high. They come from the registry’s own search, which expands a condition name to related conditions, so some of the trials counted are for a different disease in the same family.
Search ClinicalTrials.gov Search the WHO registry portal Joining a trial overseas
Trials not shown here
Some Australian trials are registered only on the Australian New Zealand Clinical Trials Registry and are not shown here. Search them at Australian Clinical Trials.
Key facts
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com).
About Turner Syndrome
The text below is reproduced exactly as its source published it. It has not been edited, shortened or rewritten.
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
US source; availability in Australia may differ.
Source: MedlinePlus Health Topics (medlineplus.gov), public domain (U.S. National Library of Medicine). Read the full source.
Sources and dates
- MedlinePlus – the About text above, reproduced exactly
- Orphanet / Orphadata – prevalence, age of onset, inheritance, genes and alternative names, used under CC BY 4.0
- This page last checked by Voxsanity: 16 October 2026.
Voxsanity reformats data from public registries into this layout. It does not edit, interpret or add to what the registry published.
Not medical advice.
Individual trial records are refreshed on a rolling basis rather than all at once, so a record may be up to several weeks old. Each trial page and trial card shows the date its own record was last synced. Where a record has lagged, its status, sites and enrolment can differ from the current registry state in either direction, so check the registry link on the trial page before acting on them.
Orphanet citation
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com). Accessed 20 September 2026.
Turner Syndrome is one of the rare diseases tracked on the Voxsanity rare disease hub, where you can compare it with every other rare condition we follow and filter trials by country.
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