Turner Syndrome
A genetic condition affecting females from a missing X chromosome
Quick Facts
- Type: Genetic (chromosomal) condition
- Affects: Females (missing/partial X chromosome)
- Common features: Short stature, ovarian insufficiency
- Diagnosis: Karyotype (chromosome) test
Overview
Turner syndrome is a genetic condition that affects girls and women. It occurs when one of the two X chromosomes that females usually have is completely or partly missing in some or all cells. This single missing or altered chromosome affects development in several ways, most notably growth and the function of the ovaries.
The features of Turner syndrome vary widely. The most common are shorter-than-average height and ovaries that do not develop or function normally, which affects puberty and fertility. Other parts of the body, including the heart, kidneys, ears, and bones, can also be involved. With early diagnosis and ongoing care, including growth treatment and hormone replacement, many of these issues can be managed, and most women with Turner syndrome lead full lives. Lifelong follow-up helps detect and treat associated conditions early.
Symptoms
Signs can appear before birth, in infancy, or later in childhood, and some are subtle. Features differ from person to person.
- Short stature, often noticed in childhood
- Delayed or absent puberty and lack of periods
- Ovaries that do not work normally, leading to fertility difficulties
- A broad chest, low-set ears, a low hairline at the back of the neck, or a webbed neck
- Swelling (puffiness) of the hands and feet in newborns
- Heart or kidney differences, hearing problems, and a higher chance of certain medical conditions
Intelligence is usually normal, though some people have specific learning differences, such as with spatial tasks or math.
Causes
Turner syndrome is caused by a missing or altered X chromosome and is generally not inherited.
- Missing X chromosome (monosomy X): The most common form, where one X chromosome is entirely absent.
- Partial X changes: Part of an X chromosome is missing or rearranged.
- Mosaicism: Some cells have two X chromosomes and others have one, which can lead to milder or variable features.
These chromosome changes usually happen by chance during the formation of reproductive cells or early development, and they are not caused by anything the parents did.
Risk Factors
- Turner syndrome occurs by chance, so there are few clear risk factors
- It is generally not linked to parental age or to anything the parents did
- Having one affected pregnancy does not strongly increase the risk in future pregnancies
Diagnosis
The diagnosis is confirmed by a chromosome test, and may be suspected at different ages.
- Karyotype (chromosome analysis): A blood test that examines the chromosomes and confirms the missing or altered X.
- Prenatal testing: Sometimes suggested by ultrasound findings or screening tests and confirmed with further testing.
- Evaluation of related organs: Heart and kidney imaging, hearing tests, and hormone tests to check for associated conditions.
Treatment
There is no cure, but treatment addresses growth, puberty, fertility, and associated health conditions, ideally with a team of specialists.
- Growth hormone: Often given in childhood to improve final adult height.
- Estrogen and hormone replacement: Used to start and support puberty and to maintain bone and general health, usually continued into adulthood.
- Fertility options: Many women have reduced fertility, but options such as donor eggs and assisted reproduction may make pregnancy possible, with careful heart monitoring.
- Monitoring associated conditions: Regular checks of the heart, kidneys, hearing, thyroid, blood sugar, and bone health.
Lifelong, coordinated care helps detect and manage problems early and supports overall well-being.
Prevention
Turner syndrome cannot be prevented because it results from a chance chromosome change. Care focuses on early detection and management.
- Early diagnosis allows timely growth and puberty treatment
- Regular follow-up helps catch heart, kidney, hearing, and other issues early
- Genetic counseling can provide information for families who wish to understand the condition
When to See a Doctor
See a doctor if a girl has unexplained short stature, has not started puberty by the expected age, or has not had periods, so Turner syndrome and other causes can be evaluated. Newborns with puffy hands and feet, a webbed neck, or heart concerns should be assessed. Because heart and other problems can be serious, anyone with Turner syndrome benefits from ongoing specialist follow-up.
Frequently Asked Questions
What causes Turner syndrome?
It is caused by a missing or partly missing X chromosome in girls and women. This usually happens by chance during the formation of reproductive cells or early development and is generally not inherited or caused by anything the parents did.
What are the main features?
The most common are short stature and ovaries that do not develop or work normally, which affects puberty and fertility. Other features can involve the heart, kidneys, ears, and bones, and some people have specific learning differences, though intelligence is usually normal.
Can women with Turner syndrome have children?
Many have reduced fertility because of ovarian problems, but pregnancy may still be possible through options such as donor eggs and assisted reproduction. Because pregnancy can stress the heart, careful specialist evaluation and monitoring are important.
How is Turner syndrome diagnosed?
It is confirmed with a karyotype, a blood test that examines the chromosomes. It may be suspected before birth from ultrasound or screening, in newborns from physical features, or later in childhood from short stature or delayed puberty.
Why is lifelong follow-up needed?
Turner syndrome is linked to a higher chance of heart, kidney, hearing, thyroid, bone, and blood sugar problems. Regular monitoring allows these conditions to be detected and treated early, which supports long-term health.
References
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- MedlinePlus, U.S. National Library of Medicine. Turner syndrome.
- Mayo Clinic. Turner syndrome — Symptoms and causes.
- Genetic and Rare Diseases Information Center (GARD).