Turner Syndrome – Diagnosis and Treatment
Diagnosis
Doctors can sometimes find signs of Turner syndrome before a child is born. This often happens when certain clues appear during an ultrasound, such as a webbed neck, cystic hygroma, or heart defects.
These physical features may suggest a genetic disorder, such as Turner syndrome, or other chromosomal abnormalities.
Specialized tests look for changes in the baby’s DNA using the mother’s blood. These tests, called noninvasive prenatal screenings, might show a higher risk of missing or abnormal X chromosomes, but do not confirm the diagnosis.
If there is a chance of Turner syndrome, doctors may suggest more accurate tests like:
| Test | How It Works | When Performed |
|---|---|---|
| Chorionic villus sampling | A tiny piece of the placenta is collected and tested. | Between 11 and 14 weeks. |
| Amniocentesis | Fluid from the uterus is drawn to check the baby’s chromosomes. | After 14 weeks of pregnancy. |
These procedures allow doctors to do a detailed chromosome (karyotype) analysis, which can find missing or altered X chromosomes linked to Turner syndrome.
Additional Details
When Turner syndrome is suspected after birth, a doctor usually starts with a physical exam. Certain traits, such as short stature, broad chest, low hairline, low-set ears, webbed neck, and cubitus valgus, may be present.
Some girls also have irregular periods or features like unusual eye shape and changes in bone development. To confirm the diagnosis, a blood test is performed. The sample goes to a lab for karyotype analysis.
This test checks all chromosomes and can spot the lack of part or all of one X chromosome, or mosaic Turner syndrome where some cells are missing an X chromosome while others are not.
Sometimes, other samples such as a cheek swab or a bit of skin are useful for chromosome testing. Karyotype analysis can rule out other genetic conditions and helps doctors look for related issues, like heart or kidney defects.
If the diagnosis is unclear, more testing can help confirm if there is a genetic or chromosomal reason for the symptoms.
Treatment
Medical Support Team
A group of specialists often manage Turner syndrome to meet the individual’s medical needs.
This group, sometimes called a care team, adjusts over time as health situations change. The list below highlights some typical members of this team:
- Endocrinologist: Evaluates growth and hormone balance, especially for issues related to height and puberty.
- Gynecologist: Addresses women’s health and helps with hormone therapy and reproductive care.
- Genetics Expert: Offers advice about inherited conditions and helps understand genetic risks.
- Cardiology Support: Monitors and treats heart health, as heart problems are more common in Turner syndrome.
- Orthopedist: Takes care of bone and joint health, which is important for growth and mobility.
- Urologist: Treats kidney and urinary problems when they exist.
- ENT and Audiology: Checks for ear infections or hearing loss, which can be frequent concerns.
- Ophthalmologist: Watches over vision and screens for eye problems.
- Mental Health Support: Psychologists or psychiatrists can treat emotional or learning challenges.
- Developmental and Educational Professionals: Help address social skills or learning difficulties at home and at school.
- Fertility Expert: A reproductive endocrinologist discusses options for future pregnancy or advice about infertility.
Transitioning to adult care is also important as the patient grows older. The primary care doctor helps organize appointments and keeps all the specialists connected.
Treatment goals often include:
| Problem Area | Main Approach | Example Specialist |
|---|---|---|
| Short stature | Growth hormone therapy | Endocrinologist |
| Delayed puberty | Estrogen or other hormone therapy | Gynecologist/Endocrinologist |
| Heart issues | Medication, monitoring, or surgery | Cardiologist |
| Learning struggles | Therapy, school support | Psychologist, Educator |
| Fertility | Counseling, egg donation, IVF | Fertility specialist |
These experts monitor side effects and risks of growth hormone or hormonal medications, and adjust dosage if problems develop.
Help for Starting a Family
Most females with Turner syndrome have reduced fertility and may go through ovarian failure early. Only a few can become pregnant naturally. For those hoping to have children, early conversations with a fertility specialist are important.
Options to help with pregnancy may include:
- In vitro fertilization (IVF) with donor eggs or embryos.
- Fertility medications to try to support ovarian function, though success rates are usually low.
Pregnancy in Turner syndrome is often called high-risk. This is because there is a higher chance of heart complications, high blood pressure, and other medical issues during pregnancy.
Before trying to get pregnant, women should have a full medical checkup, especially of their heart. They should talk with a high-risk pregnancy doctor (maternal-fetal medicine specialist), who works with the care team to plan for a safe pregnancy.
It is important for patients and families to understand:
- Not every person with Turner syndrome can carry a pregnancy safely, even with treatment.
- Close observation by specialists helps manage risks.
- Support for emotional well-being is available.
Finding Support and Managing Day-to-Day Challenges
Support groups and organizations offer resources to help families and individuals handle daily challenges. Joining a group gives people a chance to talk with others, share ideas, and learn tips for managing stress and emotions.
Ways to find support:
- Parent and peer groups to share experiences.
- Discussions about self-esteem and body image.
- Help from a mental health professional for learning or attention problems (like ADHD).
Talking with others who understand Turner syndrome can help with learning problems, challenges in spatial skills, and provide comfort.
Getting Ready for Your Child’s Medical Visit
Regular Checkups and Growth Assessments
Healthcare providers track height and weight, check overall growth, and watch for any physical changes that suggest milestones might be delayed during scheduled visits for kids with Turner syndrome.
To make the most of these checkups, it helps to bring a few notes about your child’s recent behavior, eating habits, and any changes you have noticed. Parents can write down:
- Concerns about growth or how their child is developing.
- Any challenges with eating or nutrition.
- Questions about when puberty might start.
- Observations about learning or social development at school.
Tip: At each visit, caregivers should be ready to discuss any new symptoms or health concerns. Sharing small changes or worries, even if they seem minor, helps the healthcare provider see the big picture.
A simple table like this can help you keep track:
| Observation Area | Notes to Share |
|---|---|
| Growth (height, weight) | Slow growth, growth spurt |
| Eating habits | Good appetite, picky eater |
| Puberty signs (if expected) | None, starting, delayed |
| School and social interactions | Good, struggles noticed |
| Other health issues | Headaches, tiredness, etc. |
Bringing this table to an appointment can help guide the conversation.
Sticking to regular appointments—even when your child seems healthy—is key. These visits allow the healthcare provider to spot issues early and give guidance that matches your child’s needs.
Keeping track of appointment dates, testing schedules, and follow-up plans in a notebook or smartphone calendar can help families stay organized.
Discussing Turner Syndrome with the Healthcare Provider
Open talk between families and the healthcare provider is important, especially if Turner syndrome is newly diagnosed or suspected.
There are many questions that families might want to ask to learn about their child’s health and what care is needed. Bringing a written list helps make sure nothing is missed during a busy appointment.
Key questions to ask can include:
- What tests will help confirm the diagnosis?
- When will the results be ready?
- What happens after we get the results?
- Will we need to see other doctors, like heart or hormone specialists?
- How will my child be checked for issues linked to Turner syndrome, such as heart or kidney concerns?
- What can I look for at home to spot health or learning concerns early?
- Are there reliable resources, books, or websites you suggest?
- What kind of local or online support groups are available?
Tip: If something the doctor says is unclear, ask for it to be explained in a different way or to get information in writing.
Some children and teens may have questions of their own. If they are old enough, including them in the conversation encourages understanding and comfort with their healthcare.
It’s useful to know which healthcare providers will be involved. Children with Turner syndrome often need to see more than one specialist. Possible care team members may include:
- Pediatricians
- Heart doctors
- Hormone specialists
- Learning or behavior experts
Making sure all members of the healthcare team talk to each other helps provide the best care possible.
