Turner’s Syndrome

Turner’s syndrome is a genetic condition that affects only females, occurring when one of the X chromosomes is partially or completely missing. While there is no cure, early diagnosis and treatment can help girls and women with this condition lead healthy, productive lives.

Table of contents

• What is Turner’s syndrome?
• What causes Turner’s syndrome?
• Signs and symptoms
• How is it diagnosed?
• Associated health problems
• Treatment and management
• Living with Turner’s syndrome

TS, monosomy X, 45X, Ullrich-Turner syndrome

What is Turner’s syndrome?

Turner’s syndrome is a genetic condition that only affects females. It happens when one of the X chromosomes (the structures in cells that carry genetic information) is partially or completely missing. Typically, females have two X chromosomes, but in Turner’s syndrome, one of these chromosomes is absent or abnormal.^[1]

The condition affects approximately 1 in 2,000 to 2,500 female babies born. However, this abnormality is much more common in pregnancies that do not survive to term. It has been estimated that only one percent of fetuses with this chromosomal abnormality survive to term, and as many as 10 percent of miscarriages have this chromosomal abnormality.^[2]

Turner’s syndrome affects everyone differently. The most common features include short stature and problems with ovary function, but the severity and range of symptoms can vary widely from person to person.^[1]

What causes Turner’s syndrome?

Humans typically have 23 pairs of chromosomes (structures that hold genes), for a total of 46 in each cell. This includes 22 pairs of numbered chromosomes and one pair of sex chromosomes. You inherit one chromosome of each pair from each biological parent. The sex chromosomes determine whether someone is male or female: typically, females have two X chromosomes (XX), while males have one X chromosome and one Y chromosome (XY).^[1]

Turner’s syndrome occurs when one of the X chromosomes is missing or altered. There are two main types of Turner’s syndrome. In monosomy X, each cell in the body has only one copy of the X chromosome instead of the usual two. This happens due to an error with either the sperm or the egg from the biological parent, and is typically the more severe form of the condition.^[1]

In mosaic Turner syndrome, the X chromosome is partially missing in only some cells of the body. This happens randomly during fetal development. People with mosaic Turner syndrome often have milder signs and symptoms than those with the complete form.^[4]

Turner’s syndrome is not caused by anything the parents did or did not do. It happens by chance and is not usually passed down in families. Advanced parental age is not considered a significant factor, and there are no clearly established environmental risk factors.^[3]

Signs and symptoms

The symptoms of Turner’s syndrome can vary greatly between individuals. Some girls have noticeable symptoms early in life, while others might not show signs until later. Symptoms can be mild and develop gradually during childhood, or they can be significant and noticeable shortly after birth. Some people don’t receive a diagnosis until adulthood.^[1]

Healthcare providers may suspect Turner’s syndrome before birth based on prenatal genetic testing or pregnancy ultrasound. Signs that may appear during pregnancy include the fetus having heart problems, kidney or urinary problems, or fluid collecting around the back of the neck.^[1]

Physical features that may appear at birth or shortly after include:^[1]

• Extra folds of skin on the neck (webbed neck)
• Low hairline at the back of the neck
• Low-set, misshapen, elongated, or cup-shaped ears with thick ear lobes
• Small and receding lower jaw
• Broad chest with nipples that are spaced far apart
• Arms that point out slightly at the elbows
• Puffy hands and feet (lymphedema)
• Flat feet
• Narrow fingernails and toenails

Almost everyone with Turner’s syndrome experiences short stature and problems with ovary function. Girls with the condition typically grow more slowly than their peers, with this difference usually becoming noticeable by age 5. They often lack growth spurts as children or teenagers.^[1]

Without treatment, the average adult height for women with Turner’s syndrome is about 143 centimeters (4 feet 8 inches).^[2]

Reduced functioning of the ovaries (the female reproductive organs that produce egg cells and hormones) is very common. The ovaries may develop normally at first, but egg cells usually die prematurely and most ovarian tissue breaks down before birth. Many females with Turner’s syndrome do not undergo puberty unless they receive hormone therapy. This means they may not develop breasts or start menstrual periods at the expected age. Most are unable to become pregnant naturally, although a small percentage retain normal ovarian function through young adulthood.^[4]

Other features that may be present include multiple pigmented moles on the skin and difficulty straightening the elbows completely.^[2]

How is it diagnosed?

Turner’s syndrome can be diagnosed at various life stages. Sometimes it is identified before birth through prenatal screening tests or ultrasound. In other cases, diagnosis happens at birth due to physical features, during childhood when a girl doesn’t grow at a similar rate to her peers, during teenage years when puberty fails to arrive, or even in adulthood during investigations for infertility.^[2]

If Turner’s syndrome is suspected during pregnancy, two procedures can be used to test for the condition before birth. Chorionic villus sampling (CVS) involves taking a small piece of tissue from the developing placenta, usually between 11 and 14 weeks of pregnancy. Amniocentesis involves taking a sample of the amniotic fluid from the uterus, typically after 14 weeks of pregnancy. Both tests allow examination of the baby’s chromosomes.^[8]

After birth or at any age, Turner’s syndrome is diagnosed using a blood test to analyze chromosomes. This test, called a karyotype, examines the number and structure of chromosomes in cells. Occasionally, a cheek scraping or skin sample may also be used.^[8]

The diagnosis may be prompted by clinical suspicion based on physical features, growth delay, or other symptoms. A complete evaluation also typically includes:^[2]

• Clinical history
• Physical examination
• Psychological and educational assessment
• Blood tests

Associated health problems

Turner’s syndrome can affect many different body systems. Understanding these potential complications helps ensure early detection and proper management.^[1]

Heart problems are among the most serious concerns. About 30 to 50 percent of individuals with Turner’s syndrome are born with a heart defect. Common problems include narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (bicuspid aortic valve). Some people may develop progressive enlargement of the aortic root or, rarely, life-threatening aortic dissection or rupture. All patients should have a cardiovascular evaluation at diagnosis, and those with heart abnormalities need long-term follow-up care.^[4]

Kidney problems are also common. About 30 percent of individuals have kidney malformations or urinary system abnormalities.^[1]

Hearing problems occur frequently. These may include recurrent ear infections and decreased hearing, particularly sensorineural hearing loss.^[2]

Bone health can be affected. Women with Turner’s syndrome are at higher risk for developing thin bones (osteoporosis), making it important to ensure adequate calcium and vitamin D intake throughout life.^[2]

Thyroid problems are common, as are other hormonal issues. Regular monitoring of thyroid function is important.^[2]

Additional health concerns may include high blood pressure (hypertension), obesity, diabetes, an atherogenic lipid profile (unfavorable cholesterol levels), eye problems including strabismus (crossed eyes), and inflammatory bowel disease.^[3]

Most people with Turner’s syndrome have normal intelligence. However, some may experience developmental delays, problems with spatial awareness (such as difficulty with math or map reading), nonverbal learning disabilities, or attention difficulties. The effects on learning and behavior vary among affected individuals.^[4]

Treatment and management

There is currently no cure for Turner’s syndrome, but treatment and support can help manage symptoms and allow individuals to lead healthy, productive lives. Because the condition affects multiple body systems, care typically involves a team of healthcare professionals working together.^[5]

Growth hormone therapy is the standard treatment for short stature in childhood. Treatment typically begins when growth problems are identified and continues until the child reaches a bone age of about 14 years. The ideal age for starting treatment has not been definitively established, but taller adult heights occur with the longest treatment durations before the start of puberty.^[9]

Estrogen replacement therapy is usually required to support pubertal development and maintain bone and reproductive system health. Treatment typically starts around age 12 to 15 years, though it can begin earlier in some cases. Starting with low doses helps ensure proper development while not compromising final adult height. After initial continuous low-dose treatment, estrogen can be cycled, and progestin (another hormone) is added later. Ongoing estrogen therapy is important for maintaining bone health and preventing osteoporosis.^[9]

Regular health monitoring is essential. This includes:^[5]

• Regular blood pressure checks
• Bone density testing
• Thyroid function monitoring
• Cardiovascular evaluations, including periodic echocardiography
• Hearing tests
• Eye examinations
• Kidney function assessment

Specific treatments may be needed for associated health problems. For example, heart defects may require surgery or ongoing monitoring. Hearing problems may need medical treatment or hearing aids. Learning difficulties may require educational support.^[5]

Calcium and vitamin D supplementation should be initiated by age 10 to support bone health.^[12]

Almost all women with Turner’s syndrome are infertile. However, advances in reproductive technology, including egg donation and in vitro fertilization (IVF), can help some women with this condition have children. Women considering pregnancy should have a complete cardiovascular evaluation beforehand, as pregnancy carries increased risks, particularly for those with certain heart abnormalities.^[14]

Psychological support, including talking therapies and counseling, may be helpful for those experiencing depression, low self-esteem, or difficulties related to learning challenges or puberty.^[5]

Living with Turner’s syndrome

With appropriate medical care and support, most people with Turner’s syndrome can lead relatively normal, healthy lives. Turner’s syndrome is a lifelong condition that requires ongoing medical follow-up and management of associated health issues.^[5]

Life expectancy may be slightly reduced compared to the general population, but with regular health checks and early treatment for health problems, many women with Turner’s syndrome live into their senior years. The key to good outcomes is comprehensive, coordinated healthcare throughout life.^[5]

A well-planned transition from pediatric to adult healthcare is important. As children with Turner’s syndrome grow into adults, they need to establish care with adult specialists who understand the condition and can provide appropriate ongoing monitoring and treatment.^[14]

Support from other people affected by Turner’s syndrome can be valuable. Patient organizations and support groups provide information, resources, and connections with others who understand the challenges of living with the condition.^[5]

While Turner’s syndrome presents certain challenges, particularly related to growth, puberty, and fertility, it does not define a person. With proper medical care, educational support when needed, and psychosocial support, individuals with Turner’s syndrome can achieve their full potential in education, careers, relationships, and all aspects of life.^[5]