What are the common physical exam findings and management strategies for individuals with Turner syndrome?

Physical Examination Findings and Management in Turner Syndrome

Turner syndrome patients require comprehensive cardiovascular evaluation at diagnosis due to high risk of aortic dissection, with specific monitoring of aortic dimensions using ASI measurements to guide surveillance frequency and surgical intervention decisions.

Key Physical Examination Findings

Characteristic Physical Features

• Short stature (cardinal feature)
• Webbed neck
• Broad chest with widely spaced nipples
• Cubitus valgus (increased carrying angle at elbow)
• Misshapen ears
• Lymphedema (particularly in hands and feet)

Cardiovascular Findings (Critical for Mortality Risk)

• Bicuspid aortic valve (present in 10-25% of patients) 1
• Aortic coarctation (present in approximately 8% of patients) 1
• Aortic dilatation (present in 33% of patients when defined as ascending-to-descending aortic diameter ratio >1.5) 1
• Hypertension

Management Strategies

Cardiovascular Management (Highest Priority)

1. Initial Cardiovascular Assessment

   • TTE and cardiac MRI at diagnosis to evaluate for congenital abnormalities and measure aortic diameters 1
   • Calculate Aortic Size Index (ASI) for patients ≥15 years old by dividing maximal aortic diameter (cm) by BSA (m²) 1
   • For children <15 years, use Turner syndrome-specific z-scores 1

2. Surveillance Imaging Protocol

   • For patients with NO risk factors (bicuspid aortic valve, coarctation, dilated aorta):

     • Children: Every 5 years 1
     • Adults: Every 10 years 1
     • Before pregnancy 1

   • For patients with risk factors AND stable ASI ≤2.3 cm/m²:

     • Every 2-3 years with TTE or MRI 1

   • For patients with ASI >2.3 cm/m²:

     • At least annual imaging 1

3. Surgical Intervention Criteria

   • For patients ≥15 years with ASI ≥2.5 cm/m² plus risk factors (BAV, coarctation, hypertension):

     • Surgical replacement of aortic root/ascending aorta is reasonable 1

   • For patients ≥15 years with ASI ≥2.5 cm/m² without risk factors:

     • Surgical intervention may be considered 1

Growth Management

• Growth hormone therapy in early childhood for short stature 2
  • Standard treatment is recombinant human growth hormone
  • Early initiation leads to better height outcomes
  • Monitor for potential effects on aortic diameter, though studies have not shown evidence of left ventricular hypertrophy 1

Hormonal Management

• Estrogen therapy initiated by adolescence for:
  • Pubertal development
  • Prevention of osteoporosis 2

Additional Management Considerations

• Screening for renal malformations
• Audiologic evaluation for sensorineural hearing loss
• Monitoring for metabolic disorders:
  • Diabetes (types 1 and 2)
  • Osteoporosis
  • Obesity
  • Atherogenic lipid profiles 2
• Fertility counseling (most women with Turner syndrome are infertile)

Important Caveats and Pitfalls

1. Diagnostic Delay: Despite characteristic physical features, diagnosis is often delayed until around age 15 3. Early diagnosis is crucial for timely intervention.

2. Aortic Dissection Risk:

   • Average age of aortic dissection is 31 years with less than 50% survival 1
   • Incidence is 36:100,000 Turner syndrome years (1.4%) compared to 6:100,000 in general population 1
   • Risk assessment must account for short stature by using ASI rather than absolute aortic dimensions 1

3. Growth Hormone Considerations:

   • May affect body proportions, potentially causing relatively wider pelvis 4
   • Monitor effect on aortic dimensions during treatment

4. Pregnancy Risks:

   • Requires pre-pregnancy cardiovascular assessment
   • High-risk for aortic complications
   • Assisted reproduction may be needed for fertility

By following these guidelines, clinicians can significantly reduce morbidity and mortality in patients with Turner syndrome, particularly from the life-threatening risk of aortic dissection.