What tests are recommended for a 22-year-old with Turner's syndrome?

From the Guidelines

A 22-year-old with Turner's syndrome should undergo annual physical examinations, blood pressure monitoring, cardiovascular evaluation with echocardiogram and cardiac MRI, thyroid function tests, liver function tests, lipid profile, glucose tolerance test, bone density scan, hearing assessment, and renal ultrasound, with a focus on cardiovascular assessment using the aortic size index (ASI) to evaluate the risk of aortic dissection. The ASI is calculated by dividing the maximal aortic diameter by the body surface area (BSA), and an ASI >2.0 cm/m2 is considered abnormal, with an ASI ≥2.5 cm/m2 associated with an increased risk of aortic dissection 1.

Key Recommendations

• Annual cardiovascular evaluation with echocardiogram and cardiac MRI to assess for congenital heart defects and aortic dilation, with the use of ASI to define the degree of aortic dilation and assess the risk of aortic dissection in patients ≥15 years old 1
• Thyroid function tests to detect hypothyroidism, which occurs more frequently in Turner's syndrome patients
• Glucose monitoring to detect diabetes, which is more common in these patients
• Bone density scans to monitor for osteoporosis, especially since estrogen deficiency affects bone health
• Hearing evaluations to detect progressive hearing loss common in Turner's syndrome
• Regular kidney imaging to detect structural abnormalities that may be present

Cardiovascular Evaluation

The cardiovascular assessment is crucial as Turner's syndrome patients have a high risk of aortic dissection and congenital heart defects, with approximately 50% of patients having cardiovascular defects, including bicuspid aortic valve (BAV), aortic coarctation, and ascending aortic dilation 1. The use of ASI is recommended to monitor the aorta in patients ≥15 years old, with an ASI >2.3 cm/m2 requiring annual surveillance imaging of the aorta 1.

Multidisciplinary Care

These comprehensive evaluations should be coordinated by a multidisciplinary team familiar with Turner's syndrome to address the multiple organ systems potentially affected by this condition, including cardiovascular, endocrine, and renal systems 1. Regular gynecological care with hormone replacement therapy monitoring is also essential for these patients.

From the Research

Recommended Tests for a 22-year-old with Turner's Syndrome

The following tests are recommended for a 22-year-old with Turner's syndrome:

• Cardiovascular evaluation, including magnetic resonance angiography and echocardiography to assess for congenital heart abnormalities and aortic enlargement 2, 3
• Hearing tests to monitor for hearing problems, which can predispose to falls and increase the risk of osteoporosis 4, 2
• Thyroid function tests, including thyroid-stimulating hormone (TSH), triiodothyronine (total-TT3), and thyroxine (free and total-fT4, TT4) concentrations to monitor for thyroid disorders, which are common in patients with Turner syndrome 2, 5
• Bone mineral density tests to assess for osteoporosis, which is a common complication in patients with Turner syndrome 4
• Screening for autoimmune disorders, such as celiac disease and inflammatory bowel disease, which can increase the risk of osteoporosis 4
• Monitoring for vitamin D deficiency, which can also increase the risk of osteoporosis 4
• Regular monitoring of blood pressure and lipid profiles to assess for hypertension and dyslipidemia, which are common in patients with Turner syndrome 2, 3
• Monitoring for diabetes, which is a common complication in patients with Turner syndrome 6, 2

Frequency of Tests

The frequency of these tests may vary depending on the individual's specific needs and medical history. However, it is generally recommended that:

• Cardiovascular evaluation be performed regularly, with the frequency depending on the presence and severity of congenital heart abnormalities 3
• Hearing tests be performed annually 2
• Thyroid function tests be performed annually 5
• Bone mineral density tests be performed every 2-3 years 4
• Screening for autoimmune disorders and vitamin D deficiency be performed as needed, based on clinical suspicion and medical history 4
• Monitoring of blood pressure and lipid profiles be performed regularly, with the frequency depending on the individual's medical history and risk factors 2, 3
• Monitoring for diabetes be performed regularly, with the frequency depending on the individual's medical history and risk factors 6, 2