Screenings for people with Turner syndrome

The main guideline

The current international guideline was published in May 2024 after a consensus meeting in Aarhus, Denmark in June 2023. The project was started by the European Society for Endocrinology and the Pediatric Endocrine Society, with members from many other societies. It says the surveillance guidance applies to people with Turner syndrome of any karyotype. (Turner guideline, 2024) The NHS says it is important to have regular health checks, for example of blood pressure, bone density and how well the thyroid works. (NHS)

Checks by age in the 2024 guideline

All of these are from the 2024 guideline. (Turner guideline, 2024)

Check	When
Heart ultrasound (echocardiogram)	At diagnosis; if normal, again at 9 to 11 years, after growth or at the move to adult care, then at least every 5 to 10 years in adults
Heart MRI (or CT if MRI is not possible)	All adolescents and adults newly diagnosed, ideally within 12 months; in children, once it can be done without general anesthesia
Resting ECG	At diagnosis; follow-up as the cardiologist decides
Blood pressure	Every year, for everyone
Lipid profile (cholesterol)	No later than the local screening age or at the move to adult care, then every 3 years
Hearing test	Every 2 to 3 years from age 1 to 2 through adolescence, every 5 years in adults
Ear check (otoscopy)	Every year in childhood
Eye exam	Between 6 and 12 months of age, or at diagnosis if older
Kidney ultrasound	At diagnosis
Thyroid (TSH)	Every 1 to 2 years from age 2, through adulthood
Celiac antibodies (TTG IgA with total IgA)	From age 2, then every 2 to 5 years
Diabetes (A1C or fasting glucose)	Every 1 to 2 years from age 10 to 12
Liver enzymes	In childhood, then every 1 to 2 years from age 10, lifelong
Complete blood count	Every 1 to 2 years in adolescents and adults
Vitamin D level	Between 9 and 11 years, then every 2 to 3 years
Bone density (DXA scan)	After growth is complete but before age 21, then every 5 to 10 years
Spine check for scoliosis	At diagnosis, then at least yearly until growth stops
Skin check	Every year

MedlinePlus lists blood pressure screening, thyroid checks, blood tests for lipids and glucose, hearing screening, an eye exam and bone density testing among the tests that may be done periodically. (MedlinePlus)

Heart and blood pressure

The guideline says people with Turner syndrome need lifelong heart and aorta checks, at a frequency set by their own risk factors. It recommends that heart imaging include a look at where the coronary arteries start, and an echocardiogram at diagnosis even when a scan before or after birth was normal. It recommends a yearly blood pressure check, preferably with 24-hour ambulatory monitoring. (Turner guideline, 2024) It also says people with Turner syndrome, especially with a widened aorta or a bicuspid aortic valve, should seek prompt care for sudden, severe chest, neck, shoulder, back or flank discomfort. (Turner guideline, 2024) See heart screenings by age, ECG at a checkup and blood pressure readings: what they mean.

Hearing, ears and eyes

The guideline recommends newborn hearing screening and then hearing tests every 2 to 3 years in childhood and adolescence, every 5 years in adults, and any time hearing seems reduced. It recommends a yearly ear check in childhood, yearly tympanometry up to age 5 where available, and an eye exam between 6 and 12 months of age, with follow-up if that exam is abnormal or new eye concerns arise. (Turner guideline, 2024) See child hearing screening, hearing tests by age and eye exams by age.

Thyroid and celiac disease

The guideline recommends a TSH test every 1 to 2 years from age 2 through adulthood and with new symptoms, and an anti-thyroid antibody test if TSH is high. It recommends a celiac antibody test from age 2 and then every 2 to 5 years, and at any age with symptoms such as stomach or bowel problems, poor growth, weight loss or anemia. (Turner guideline, 2024) See who needs a thyroid test, thyroid test results and celiac disease screening.

Blood sugar, liver, cholesterol and blood count

The guideline recommends a diabetes test (hemoglobin A1C or fasting glucose) every 1 to 2 years from age 10 to 12, or sooner with symptoms. It recommends liver enzyme tests (at least ALT) in childhood and every 1 to 2 years from age 10 for life, adding AST, GGT and ALP in adults, a lipid profile repeated every 3 years, and a complete blood count every 1 to 2 years in adolescents and adults. (Turner guideline, 2024) See A1C and blood sugar test results, liver function test results, cholesterol test by age and complete blood count results.

Kidneys

The guideline recommends a kidney ultrasound at diagnosis, more tests if new kidney or urinary concerns arise, and a yearly urine test for protein in people with certain kidney differences, such as a horseshoe kidney. (Turner guideline, 2024) See kidney disease screening.

Bones and spine

The guideline recommends a vitamin D blood test between 9 and 11 years and every 2 to 3 years after that, a DXA bone density scan after growth is complete but before age 21 and then every 5 to 10 years in adults, and repeat scans for women at higher risk and from menopause. It recommends a spine check for scoliosis at diagnosis and at least yearly until growth stops. (Turner guideline, 2024) See vitamin D test: who needs it, bone density test: how often and scoliosis screening.

Skin, sleep, mental health and cancer screening

The guideline recommends a yearly skin check, suggests screening for breathing problems during sleep throughout life, and recommends that thinking, behavior and emotional screenings be part of care at every age. For cancer, it recommends following the usual population screening guidelines. (Turner guideline, 2024) See skin checks by age, sleep apnea screening, mental health screenings by age and cancer screenings by age.

Who does the checks

The guideline recommends care from specialists in areas such as genetics, cardiology, endocrinology, hearing and eyes, and a specialist Turner syndrome clinic where one exists, in addition to the primary care provider. (Turner guideline, 2024) The NHS says a range of health professionals may be involved and will help create a care plan. (NHS)

When to contact a provider

The 2024 guideline says to seek prompt care for sudden, severe chest, neck, shoulder, back or flank discomfort, and to have hearing checked any time it seems reduced. (Turner guideline, 2024)

Where they differ:

How much detail. The 2024 guideline gives a start age and interval for each check; (Turner guideline, 2024) MedlinePlus and the NHS list the kinds of checks without intervals. (MedlinePlus) (NHS)
Eye exams. MedlinePlus lists an eye exam among the tests that may be done periodically, (MedlinePlus) while the guideline sets one exam in infancy or at diagnosis and repeats it only if it was abnormal or new concerns arise. (Turner guideline, 2024)
Compared with other adults. Several checks start earlier and repeat more often than the usual adult schedules: hearing every 5 years, diabetes tests from age 10 to 12, and a bone density scan before age 21. (Turner guideline, 2024) So the age pages such as bone density test: how often are not the whole picture.

Your doctor decides what your result means for you.

Questions people ask

How often is the heart checked in Turner syndrome?

The 2024 guideline recommends a heart ultrasound (echocardiogram) at diagnosis for everyone. If no significant heart or aorta problem is found, it repeats at age 9 to 11, after growth is complete or at the move to adult care, and at least every 5 to 10 years in adults. It also recommends a heart MRI for adolescents and adults newly diagnosed, and a yearly blood pressure check for all. (Turner guideline, 2024)

How often is thyroid testing done in Turner syndrome?

The 2024 guideline recommends a TSH blood test every 1 to 2 years starting at age 2 and continuing through adulthood, and with new symptoms. MedlinePlus lists thyroid checks among the tests done periodically. (Turner guideline, 2024) (MedlinePlus)

When does celiac disease screening start?

The 2024 guideline recommends a tissue transglutaminase antibody blood test (TTG IgA with total IgA) starting at age 2 in people without symptoms, then every 2 to 5 years, and at any age if symptoms appear. (Turner guideline, 2024)

Do adults with Turner syndrome need hearing tests?

Yes. The 2024 guideline recommends hearing tests every 2 to 3 years in childhood and adolescence, every 5 years in adults, and any time hearing seems reduced. (Turner guideline, 2024)

Is cancer screening different for women with Turner syndrome?

The 2024 guideline recommends following the usual population screening guidelines for cancer. Its separate advice for people with Y chromosome material is an individual decision with specialists. (Turner guideline, 2024)