From the Guidelines
Laboratory tests for individuals with Turner syndrome should include regular monitoring of thyroid function, lipid profiles, liver enzymes, and glucose levels, as well as cardiovascular evaluation with echocardiogram and MRI to identify heart defects and aortic issues, according to the most recent guidelines 1.
Key Laboratory Tests
- Regular monitoring of thyroid function (TSH, free T4)
- Lipid profiles
- Liver enzymes
- Glucose levels
- These tests should be performed annually starting in childhood.
Cardiovascular Evaluation
- Echocardiogram
- MRI to evaluate for associated congenital cardiovascular abnormalities and to measure aortic diameters 1.
Additional Tests
- Renal ultrasound at diagnosis to detect kidney abnormalities
- Bone density scans (DEXA) in adolescence to monitor for osteoporosis
- Hearing tests every 1-3 years due to increased risk of hearing loss
- Gonadal monitoring for those with Y chromosome material
- Complete blood count and autoimmune markers (particularly for celiac disease and thyroid antibodies) periodically
- Growth hormone levels and IGF-1 during growth hormone therapy These tests are crucial because Turner syndrome affects multiple body systems, with a significant impact on endocrine, cardiovascular, and skeletal health, and early detection of complications allows for timely intervention, improving long-term outcomes and quality of life for these patients 1.
From the Research
Laboratory Tests for Turner Syndrome
The following laboratory tests are recommended for individuals with Turner syndrome:
- Karyotyping to confirm the diagnosis of Turner syndrome 2
- Serum follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and anti-Müllerian hormone (AMH) levels to assess ovarian function 3
- Thyroid function tests to screen for hypothyroidism 4, 5
- Liver function tests to monitor for elevated liver enzymes and potential liver cirrhosis 5
- Lipid profiles to assess for dyslipidemia 6
- Fasting glucose and insulin levels, as well as oral glucose tolerance tests, to screen for impaired glucose tolerance and insulin resistance 6
- Blood pressure monitoring to screen for hypertension 4, 6
- Cardiac imaging, such as magnetic resonance imaging, to assess for congenital heart abnormalities and aortic dilatation 4
Additional Tests
Additional laboratory tests may be recommended based on individual patient needs, such as: