What is the management approach for a female patient with Turner syndrome?

Management of Turner Syndrome

All females with Turner syndrome require baseline cardiovascular imaging with both transthoracic echocardiography and cardiac MRI at diagnosis to evaluate for life-threatening cardiovascular abnormalities, followed by risk-stratified surveillance and multidisciplinary care addressing growth, reproductive health, and metabolic complications. 1, 2

Initial Cardiovascular Assessment (Most Critical Priority)

Turner syndrome carries significantly elevated risk of aortic dissection and cardiovascular mortality, making cardiac evaluation the highest priority 2, 3:

• Perform both TTE and cardiac MRI at baseline to evaluate for bicuspid aortic valve (present in 15-30%), aortic coarctation (7-18%), ascending aortic dilation (33%), elongated aortic arch, and partial abnormal pulmonary venous return 1, 2, 4
• Use cardiac MRI specifically to measure aortic diameters precisely and identify congenital abnormalities that TTE may miss 4
• If ascending aorta is not adequately visualized by TTE, use CMR or cardiovascular CT 1, 3

Risk Stratification Using Indexed Measurements (Age ≥15 Years)

Calculate the Aortic Size Index (ASI) to account for smaller body size in Turner syndrome 1, 2, 4:

• ASI = aortic diameter (mm) / body surface area (m²) 4
• Alternative: Aortic Height Index (AHI) = aortic diameter (mm) / height (m) 1, 4
• Turner-specific z-scores are equivalent to general population z-scores 1

Risk Categories and Surveillance Intervals

Low Risk (ASI <2.0 cm/m² without additional risk factors):

• Cardiology evaluation with TTE every 5-10 years for adults 1, 2
• Every 5 years for children 4

Moderate Risk (ASI 2.0-2.3 cm/m²):

• Cardiology evaluation with TTE every 3-5 years 1
• More frequent if approaching higher thresholds 3

High Risk (ASI >2.3 cm/m²):

• Annual surveillance imaging mandatory 1, 2, 4
• Consider CMR for precise measurements 3

Surgical Intervention Thresholds

Consider prophylactic aortic root/ascending aorta replacement when ASI ≥2.5 cm/m² (or AHI ≥25 mm/m) PLUS any of the following risk factors 1, 4, 3:

• Bicuspid aortic valve
• Aortic coarctation
• Uncontrolled hypertension
• Rapid aortic growth (>3 mm/year)
• Planned pregnancy

The 2024 ESC guidelines indicate this is a Class IIb recommendation (reasonable to consider) 1

Medical Management of Cardiovascular Risk

Hypertension control is critical and should be treated aggressively 4, 3:

• Beta-blockers and/or angiotensin receptor blockers (ARBs) should be considered to inhibit aortic growth, similar to Marfan syndrome protocols 4, 3
• All women with Turner syndrome have generalized arteriopathy, making blood pressure control essential 1

Growth Management

Initiate growth hormone therapy as early as possible when growth failure is identified 5:

• Early treatment optimizes final adult height
• This differs from isolated growth hormone deficiency management where timing is less critical 5

Reproductive and Hormonal Management

Initiate hormone replacement therapy at the normal age of puberty (not delayed) 5:

• Preferentially use transdermal estradiol rather than oral formulations 5
• Address primary ovarian failure and hypergonadotropic hypogonadism 6, 7

Pregnancy Considerations

Pregnancy is absolutely contraindicated if 4, 3:

• ASI >2.5 cm/m²
• Any significant aortic dilation
• Bicuspid aortic valve with any aortic enlargement
• Aortic coarctation (uncorrected or residual)
• Uncontrolled hypertension

Mandatory pre-conception evaluation includes 4, 3:

• Complete cardiovascular assessment with cardiac MRI
• ASI calculation with risk stratification
• Joint consultation with cardiology and maternal-fetal medicine
• Pregnancy carries substantially higher risk of aortic dissection, especially with pre-existing cardiovascular abnormalities 2, 3

Additional Screening and Surveillance

Screen for metabolic and autoimmune complications 6, 7:

• Type 1 and type 2 diabetes mellitus screening
• Thyroid function and anti-thyroid antibodies
• Liver function tests
• Lipid profile
• Bone mineral density (osteoporosis risk)
• Hearing assessment (otitis media risk)

Physical Activity Modifications

Encourage regular physical activity but modify based on cardiovascular status 2, 3:

• Avoid contact sports and isometric exercises if ASI >2.0 cm/m² or any cardiovascular abnormalities present 4
• Tailor recommendations to individual aortic dimensions 1

Multidisciplinary Care Structure

Establish coordinated care involving 8, 7, 9:

• Cardiology (primary for cardiovascular surveillance)
• Endocrinology (growth, hormone replacement, metabolic issues)
• Gynecology/Reproductive endocrinology (fertility, hormone therapy)
• Genetics (counseling, family planning)
• Audiology, ophthalmology, and other specialists as needed

Plan structured transition from pediatric to adult care to prevent gaps in surveillance 7, 5. The average diagnostic delay is substantial (around age 15), so maintain high clinical suspicion in females with short stature, delayed puberty, or characteristic features like webbed neck and lymphedema 6, 5.