Karyotype – Turner — RACP Paediatrics MCQ

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EasyEndocrineKaryotype – TurnerRACP Paediatrics

A 12-year-old girl has height <3rd centile, no pubertal development, webbed neck. What specific investigation?

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Correct answer: D — Karyotype

Short stature + absent puberty + dysmorphic features in a girl: karyotype to exclude Turner syndrome. All unexplained short girls should have karyotype.

Reference: RCH Melbourne – 2023 – Short Stature CPG