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Turner Syndrome — RACP Paediatrics MCQ

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ModerateEndocrinologyTurner SyndromeRACP Paediatrics

A 15-year-old girl presents with primary amenorrhoea, short stature, and a webbed neck. She has widely spaced nipples and cubitus valgus. Her karyotype is 45,X. What cardiac abnormality should be specifically screened for?

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Correct answer: B — Bicuspid aortic valve and coarctation of the aorta

Turner syndrome (45,X) is associated with bicuspid aortic valve (present in up to 30%), coarctation of the aorta, and aortic root dilatation. All patients should have cardiac imaging at diagnosis. Other features include streak gonads, short stature (responsive to GH therapy), renal anomalies, and autoimmune thyroid disease.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Turner Syndrome