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Turner syndrome — SCE Endocrinology MCQ

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ModerateReproductive EndocrinologyTurner syndromeSCE Endocrinology

A 16-year-old girl has primary amenorrhoea and short stature. Examination shows widely spaced nipples and a webbed neck. FSH is elevated, oestradiol is low and karyotype is 45,X. Blood pressure is 142/84 mmHg. What is the most appropriate next investigation?

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Correct answer: A — Cardiac MRI or echocardiography to assess aortic and congenital cardiac disease

Turner syndrome is associated with coarctation, bicuspid aortic valve and aortic dilatation, so cardiovascular assessment is essential. Water deprivation testing does not address the immediate syndrome-specific risk. The pearl is that Turner care is cardiovascular as well as reproductive.

Reference: Turner syndrome clinical practice guideline