What are the clinical features of Turner's syndrome beyond cystic hygroma?

Clinical Features of Turner Syndrome Beyond Cystic Hygroma

Turner syndrome presents with a constellation of features including short stature, ovarian dysgenesis with hypergonadotropic hypogonadism, cardiovascular malformations (particularly bicuspid aortic valve and aortic coarctation), lymphedema, webbed neck, and increased risk of endocrine and autoimmune disorders. 1, 2

Cardinal Clinical Features

Growth and Stature

• Short stature is one of the most consistent clinical features, present in nearly all patients with Turner syndrome 2, 3
• Growth hormone therapy is indicated to improve final adult height 4

Gonadal and Reproductive Features

• Ovarian dysgenesis with hypergonadotropic hypogonadism is a defining characteristic 2, 3
• Delayed or absent puberty occurs due to premature ovarian failure 2, 5
• Infertility is common, though pregnancy may be possible with assisted reproductive technology in select cases 2
• Pregnancy carries substantially increased cardiovascular risks, particularly aortic dissection, and requires mandatory pre-conception cardiovascular evaluation 1, 6

Cardiovascular Abnormalities

Structural Heart Defects

• Bicuspid aortic valve (BAV) occurs in 15-30% of patients 1, 7
• Aortic coarctation is present in 7-18% of patients 1, 4
• Ascending aortic dilation affects approximately 33% of patients 1
• Other congenital heart defects including atrial septal defects and ventricular septal defects occur with increased frequency 4

Aortic Complications

• Increased risk of aortic dissection at a young age, representing a major cause of increased cardiovascular mortality 1, 4, 3
• All patients require baseline cardiovascular imaging with transthoracic echocardiography and cardiac MRI at diagnosis 1, 7
• For patients ≥15 years old with aortic size index (ASI) ≥2.5 cm/m² plus risk factors, surgical intervention is reasonable 1, 7

Hypertension and Ischemic Disease

• Hypertension occurs with increased frequency and should be treated aggressively 6, 4
• Increased risk of ischemic heart disease and stroke contributes to reduced life expectancy 4, 3

Physical Dysmorphic Features

Craniofacial and Neck

• Webbed neck (pterygium colli) is a classic visible stigmata 1, 5
• Lymphedema of hands and feet, particularly in infancy 1, 8
• Low posterior hairline 5
• High-arched palate 5

Skeletal Features

• Cubitus valgus (increased carrying angle of the arms) 5
• Short fourth metacarpals 5
• Broad chest with widely spaced nipples 5

Endocrine and Metabolic Disorders

Thyroid Disease

• Hypothyroidism occurs with increased frequency, requiring regular screening 6, 2
• Autoimmune thyroiditis is more common than in the general population 2, 3

Glucose Metabolism

• Increased risk of type 1 and type 2 diabetes mellitus 2, 3
• Regular screening for glucose intolerance is warranted 3

Bone Health

• Osteoporosis develops due to estrogen deficiency and requires hormone replacement therapy 2, 3

Renal and Gastrointestinal Abnormalities

• Renal malformations including horseshoe kidney, duplicated collecting systems, and renal agenesis 3
• Gastrointestinal disease including inflammatory bowel disease and celiac disease occur with increased frequency 3

Autoimmune Disorders

• Increased susceptibility to autoimmune conditions beyond thyroiditis, requiring ongoing surveillance 2, 3

Prenatal Presentation

• Cystic hygroma is associated with 50-80% of Turner syndrome cases detected prenatally, resulting from lymphatic dysplasia 9
• Nonimmune hydrops fetalis may develop secondary to lymphatic dysplasia and cardiovascular malformations 9
• Increased nuchal translucency on first-trimester ultrasound 8

Important Clinical Pitfalls

Diagnostic Delay

• Despite conspicuous phenotype, average age at diagnosis is approximately 15 years, leading to missed opportunities for early intervention 2
• Maintain high index of suspicion in girls with unexplained short stature or delayed puberty 2

Cardiovascular Surveillance

• Underestimating aortic dissection risk in patients with small body size is a critical error—always use indexed measurements (ASI) or Turner-specific z-scores 6, 7
• Failure to perform baseline cardiac MRI at diagnosis misses important structural abnormalities not visible on echocardiography alone 1, 7
• Inadequate surveillance frequency for patients with ASI >2.3 cm/m² (requires at least annual imaging) 1, 7

Multidisciplinary Care Requirements

• Turner syndrome affects multiple organ systems throughout life, necessitating coordinated care involving endocrinology, cardiology, gynecology, and other specialties 2, 3
• Life-long surveillance is essential to reduce morbidity and improve life expectancy 3