Clinical Features and Management of Turner Syndrome

Introduction to Turner Syndrome

Turner syndrome presents with a constellation of features including short stature, ovarian dysgenesis with hypergonadotropic hypogonadism, cardiovascular malformations, lymphedema, webbed neck, and increased risk of endocrine and autoimmune disorders 1

Bicuspid aortic valve (BAV) occurs in 15-30% of patients with Turner syndrome 1, 2
Aortic coarctation is present in 7-18% of patients with Turner syndrome 1
Ascending aortic dilation affects approximately 33% of patients with Turner syndrome 1
Increased risk of aortic dissection at a young age, representing a major cause of increased cardiovascular mortality 1
All patients with Turner syndrome require baseline cardiovascular imaging with transthoracic echocardiography and cardiac MRI at diagnosis 1, 2
For patients ≥15 years old with aortic size index (ASI) ≥2.5 cm/m² plus risk factors, surgical intervention is reasonable 1, 2

Pregnancy carries substantially increased cardiovascular risks, particularly aortic dissection, and requires mandatory pre-conception cardiovascular evaluation 1, 3
Hypothyroidism occurs with increased frequency in patients with Turner syndrome, requiring regular screening 3

Webbed neck (pterygium colli) is a classic visible stigmata of Turner syndrome 1
Lymphedema of hands and feet, particularly in infancy, is a common feature of Turner syndrome 1

Cystic hygroma is associated with 50-80% of Turner syndrome cases detected prenatally, resulting from lymphatic dysplasia 4
Nonimmune hydrops fetalis may develop secondary to lymphatic dysplasia and cardiovascular malformations in patients with Turner syndrome 4

Underestimating aortic dissection risk in patients with Turner syndrome with small body size is a critical error—always use indexed measurements (ASI) or Turner-specific z-scores 3, 2
Failure to perform baseline cardiac MRI at diagnosis misses important structural abnormalities not visible on echocardiography alone in patients with Turner syndrome 1, 2
Inadequate surveillance frequency for patients with ASI >2.3 cm/m² (requires at least annual imaging) is a common pitfall in the management of Turner syndrome 1, 2

Approximately 50 % of individuals with Turner syndrome have cardiovascular abnormalities, which are the leading cause of premature mortality. 5
Bicuspid aortic valve is present in 15–30 % of patients, making it the most common congenital cardiac defect. 6, 5, 7
Aortic coarctation occurs in 7–18 % of patients. 6, 5, 7
Ascending aortic dilation affects roughly one‑third (≈33 %) of patients. 5, 7

Aortic dissection in Turner syndrome develops at younger ages and at smaller absolute aortic diameters than in the general population, reflecting the characteristic short stature. 5
Type A dissection accounts for about 85 % of cases, whereas Type B comprises the remaining 15 %. 5, 7
Key risk factors for dissection include aortic dilation, hypertension, bicuspid aortic valve, and aortic coarctation. 6, 5, 7
Relying on absolute aortic measurements without indexing to body size markedly underestimates dissection risk. 5

Short stature is universal in classic 45,X monosomy (≈100 %) and present in about 78 % of mosaic forms, influencing aortic size thresholds used for risk stratification. 6, 8

Patients with an aortic size index > 2.3 cm/m² require at least annual cardiovascular imaging; longer intervals (e.g., 5–10 years) are insufficient. 5