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Hormone and bone diseases

Turner syndrome

A chromosome difference seen only in girls. One of the two X chromosomes is missing or incomplete. The most common signs are short stature and ovaries that do not work well.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Hormone and bone diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Girls normally have two X chromosomes. In Turner syndrome, one of them is completely or partly missing. Sometimes this difference is found only in some cells; this is called mosaicism. Growth and the ovaries are affected the most. Intelligence is usually normal.

Which symptoms can occur?

Each girl can have different symptoms.

  • Short stature (almost always)
  • Ovaries that do not work well; delayed puberty and infertility (very common)
  • Folds of skin on the neck, a low hairline at the back of the neck
  • Swelling of the hands and feet in infancy
  • Heart defects present from birth (in a third to a half)
  • Kidney problems and hearing loss
  • Some learning difficulties

How is it diagnosed?

The diagnosis is made with a blood test that counts the chromosomes. The condition can be noticed at birth, in childhood or in adolescence. It can also be found with tests done during pregnancy after ultrasound findings. The heart, kidneys and hormones are also examined.

Treatment and care

There is no treatment that removes the condition, but support is good. Hormone treatment helps growth and puberty. Blood pressure, thyroid, bone density and the heart are followed up regularly. Learning support and psychological support are given when needed. For those who want to have children, options such as IVF can be discussed. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is usually not inherited. The difference happens by chance when the egg or sperm cells are formed or at the start of pregnancy. It has nothing to do with the parents' age or anything they did. Very rarely, a partial loss in the X chromosome can be passed on in the family. You can get genetic counselling for your questions.

Source: NHS: Turner syndrome · MedlinePlus Genetics: Turner syndrome · MedlinePlus: Turner syndrome

Key facts

When does it usually start?
Before birth, Childhood, Infancy, Newborn period

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Turner

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 17 active interventional studies for this disease. 8 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Hormone and bone diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:881 · ICD-11 LD50.0

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.