From the Guidelines
For a 22-year-old female with Turner syndrome, it is crucial to prioritize laboratory tests and monitoring that address the increased risks of cardiovascular complications, autoimmune disorders, and other comorbidities associated with the condition, focusing on tests such as thyroid function, liver function, fasting blood glucose or HbA1c, lipid panel, renal ultrasound, bone density testing, complete blood count, comprehensive metabolic panel, and regular blood pressure monitoring. Given the high risk of aortic dilation and dissection in Turner syndrome patients, as highlighted in the 2022 ACC/AHA guideline for the diagnosis and management of aortic disease 1, surveillance imaging with TTE or MRI to evaluate the aorta is recommended, with the frequency depending on the presence of risk factors and the aortic size index (ASI). The patient's management should also consider the recommendations from the 2018 AHA/ACC guideline for the management of adults with congenital heart disease 1, emphasizing the importance of evaluating for BAV, CoA, and aortic enlargement to provide accurate risk assessment for exercise, pregnancy, or other considerations.
Key laboratory tests and monitoring strategies include:
- Annual thyroid function tests (TSH, free T4) to screen for hypothyroidism
- Liver function tests to monitor for liver abnormalities
- Fasting blood glucose or HbA1c to assess for diabetes risk
- Lipid panel to evaluate cardiovascular risk factors
- Renal ultrasound to check for kidney abnormalities
- Bone density testing (DEXA scan) to monitor for osteoporosis
- Complete blood count and comprehensive metabolic panel for routine screening
- Regular blood pressure monitoring due to the increased risk of hypertension
- Hearing and vision assessments every 1-3 years
- Appropriate monitoring if the patient is on estrogen replacement therapy
These recommendations are based on the latest guidelines and evidence, prioritizing the patient's morbidity, mortality, and quality of life outcomes. The 2022 ACC/AHA guideline 1 provides the most recent and highest quality evidence for managing aortic disease in Turner syndrome, emphasizing the importance of tailored surveillance and intervention strategies.
From the Research
Laboratory Tests for Turner Syndrome
The following laboratory tests are recommended for a 22-year-old female with Turner syndrome:
- Complete blood count (CBC) to monitor for anemia and other blood disorders 2
- Electrolyte panel to monitor for electrolyte imbalances 2
- Blood glucose testing to monitor for diabetes and insulin resistance 3, 4
- Lipid profile to monitor for high cholesterol and triglycerides 3, 4
- Thyroid function tests (TSH, free T4) to monitor for hypothyroidism 5
- Liver function tests (ALT, AST) to monitor for liver damage 2
- Renal function tests (creatinine, urea) to monitor for kidney damage 2
- Echocardiography to monitor for cardiac malformations and dysfunction 2, 3
- Blood pressure monitoring to monitor for hypertension 2, 3, 4
- Dual-energy X-ray absorptiometry (DXA) to monitor for osteoporosis 6
- Parathyroid hormone (PTH) level to monitor for primary hyperparathyroidism 6
- Calcium level to monitor for hypercalcemia 6
Additional Tests
Additional tests may be recommended based on individual factors, such as:
- Family history of certain medical conditions
- Presence of other medical conditions, such as diabetes or hypertension
- Use of certain medications, such as growth hormone or hormone replacement therapy 2, 3
- Presence of symptoms, such as severe osteoporosis or hypercalcemia 6
Frequency of Testing
The frequency of testing will depend on individual factors, such as: