Turner Syndrome
Specialty
Program
What Is Turner Syndrome?
Turner syndrome, a genetic condition, occurs when part or all of the second sex chromosome (X or Y) is missing, often called monosomy X. Most individuals with Turner syndrome have a 45,X chromosome pattern in some or all of their cells, unlike the typical 46,XX or 46,XY patterns.
Turner syndrome varies greatly between individuals. Common features include short stature, heart defects, delayed puberty, infertility, and hormone issues.
Babies assigned male at birth or those with genital differences can also have missing or incomplete Y chromosomes. While they are not typically diagnosed with Turner syndrome, they may experience similar symptoms and health concerns.
How Common Is Turner Syndrome?
Approximately 1 in every 2,000 to 2,500 babies assigned female sex are born with Turner syndrome. While this may sound rare, Lurie Children's cares for hundreds of children and adolescents with Turner syndrome.
Can Boys Have Turner Syndrome?
Babies assigned male at birth and babies born with differences of the genitalia can have a 45,X cell line in their bodies. These individuals are not classically diagnosed with Turner syndrome but are at risk for the various symptoms and health complications associated with Turner syndrome. At Lurie Children’s, the Turner Syndrome Program and SPROUT take care of these children.
What Are the Signs & Symptoms of Turner Syndrome?
The below characteristics may be seen in individuals with Turner syndrome:
- Short stature
- Subtle physical differences, including a broad chest, neck webbing (skin fold on the back of the neck), high arched upper palate in the mouth, and/or low-set ears
- Heart defects
- Kidney defects
- Delayed/atypical puberty
- Endocrine/hormonal disorders
- Autoimmune disorders, like thyroid disease
- Type 2 diabetes
- Infertility or difficulty conceiving a pregnancy
- Vision problems, like needing to wear glasses
- Hearing difficulties
It’s important to note that Turner syndrome can vary widely from person to person. Some individuals experience many of these symptoms, while others have only a few. Because it’s difficult to predict exactly which symptoms someone may have, ongoing care from a knowledgeable medical team is essential.
Causes of Turner Syndrome
Turner syndrome is caused by a missing or incomplete X (or Y) chromosome. Most cases happen randomly during the creation of eggs or sperm and are not caused by anything a parent did.
Some people have mosaicism, where some cells have 45,X chromosomes, and others are different (e.g., 46,XX). These variations can affect health and development.
Potential Health Concerns
- Heart Problems: Structural issues or valve problems are common; lifelong heart care is needed.
- Kidney Issues: May not cause symptoms but can increase urinary tract infection risk.
- High Blood Pressure: Linked to kidney and heart concerns.
- Hearing Loss: Often from nerve damage or frequent ear infections.
- Vision Problems: Weak eye muscles or nearsightedness; many need glasses.
- Autoimmune Disorders: Higher risk for thyroid disease, diabetes, or celiac disease.
- Bone Health: Short stature (may be treated with growth hormone), spine curvature, or osteoporosis.
- Learning and Mental Health: Challenges with math, memory, ADHD, anxiety, or social skills.
- Infertility: Most individuals cannot conceive naturally but may consider fertility treatments.
- Pregnancy Risks: Higher chances of complications; specialists should evaluate risks beforehand.
Development & Learning
People with Turner syndrome generally have normal intelligence and strong reading and language skills. However, early developmental delays or learning difficulties with math and focus are common.
Support strategies for school may include:
- Front-of-class seating
- Extra test time
- Small group math lessons
Children may also need help with social skills or confidence, especially in middle and high school. With support, they can form strong friendships, succeed in school, and thrive as adults.
How Is Turner Syndrome Diagnosed?
Turner syndrome can be diagnosed at any age:
- During pregnancy: Found through prenatal screening or ultrasounds.
- Infancy: Signs include puffy feet, heart defects, or slow growth.
- Childhood/Adolescence: Delayed puberty or short height.
- Adulthood: Irregular periods or trouble getting pregnant.
Diagnosis is confirmed through a blood test called a chromosome analysis, which looks for missing or altered chromosomes.
How Is Turner Syndrome Treated?
Managing Turner syndrome requires care from multiple specialists to monitor and treat symptoms. Children are usually seen every 1–3 years in a Turner Syndrome Program, with additional visits to their endocrinologist or other specialists as needed.
Common Screenings
- Heart Health: Heart ultrasound (echocardiogram) at diagnosis, with follow-ups as recommended. Blood pressure, heart rhythm, and sometimes an MRI will be checked.
- Endocrine Health: Growth, thyroid function, and puberty are monitored with blood tests, X-rays, and physical exams.
- Ear, Nose, and Throat: Evaluations as needed by primary care or a specialist.
- Hearing: Hearing tests with an audiologist.
- Vision: Eye exams as recommended by a specialist.
- Kidney Health: Kidney ultrasound to detect changes that may raise the risk of urinary tract infections.
- Learning: Neuropsychology evaluations for ADHD, anxiety, and learning disabilities.
- Bone Health: Bone density scans (DXA) starting at age 18, or earlier if fractures occur.
- Gastrointestinal Health: Blood tests to check for celiac disease or liver issues.
Hormone Treatments
- Growth Hormone Therapy (GHT): Most individuals with Turner syndrome have short stature. Growth hormone therapy, given as daily injections, can help increase height during childhood. Treatment stops when growth ends in adolescence. Without treatment, the average adult height is about 4 feet 8 inches.
- Hormone Replacement Therapy (HRT): Ovaries in Turner syndrome often do not function properly, delaying puberty and affecting long-term health (e.g., bones and heart). Hormone replacement therapy (HRT) helps with puberty and maintaining health. HRT is usually started by age 12 and comes as a pill or skin patch. The dose starts low and increases gradually, continuing until the typical age of menopause.
Lurie Children's Turner Syndrome Program
Lurie Children's offers specialized care for individuals with Turner syndrome, from prenatal diagnosis through young adulthood. Our team provides personalized, family-centered care to address medical, developmental, and emotional needs.
Make an Appointment
Call the Division of Endocrinology to set up an appointment. Our program offers both one-time consultations and ongoing care with our team of specialists for comprehensive treatment.