A 13-year-old girl presents with primary amenorrhoea, absence of breast development, and short stature. FSH is markedly elevated (85 mIU/mL), LH is elevated (42 mIU/mL), and oestradiol is undetectable. Karyotype is 45,X. What additional cardiac evaluation is mandatory before starting oestrogen replacement?
- A Holter monitor for arrhythmia screening
- B Echocardiography and cardiac MRI to screen for bicuspid aortic valve and aortic coarctation ✓
- C Coronary angiography for premature coronary artery disease
- D Cardiac catheterisation to measure pulmonary pressures
Correct answer: B. Echocardiography and cardiac MRI to screen for bicuspid aortic valve and aortic coarctation
Explanation
Turner syndrome (45,X) is associated with cardiovascular abnormalities in 30–50% of cases, most commonly bicuspid aortic valve (30%), coarctation of the aorta (10–20%), and aortic dilatation/dissection risk. Echocardiography and cardiac MRI are mandatory at diagnosis and before oestrogen replacement (which can accelerate aortic dilatation). Coarctation must be excluded and repaired before oestrogen is initiated. Holter and catheterisation are not primary evaluations in Turner syndrome.
Reference: Ghai Essential Pediatrics, 10th ed.
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