Turner Syndrome — RACP Paediatrics MCQ

Instant feedback + full explanation. One question, done properly.

EasyEndocrinologyTurner SyndromeRACP Paediatrics

A 14-year-old girl has primary amenorrhoea, short stature, widely spaced nipples, webbed neck, and cubitus valgus. What investigation confirms the diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: B — Karyotype

Turner syndrome (45,X): karyotype is diagnostic. Features include short stature, primary amenorrhoea, webbed neck, shield chest, coarctation.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Disorders of Sex Development