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Turner syndrome — RACP Paediatrics MCQ

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ModerateEndocrineTurner syndromeRACP Paediatrics

A 10-year-old girl has short stature (below 1st centile), a broad chest with widely spaced nipples, webbed neck, and cubitus valgus. She has not yet entered puberty. Blood pressure is elevated. What is the most likely diagnosis?

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Correct answer: B — Turner syndrome

Short stature with characteristic dysmorphic features (webbed neck, broad chest with widely spaced nipples, cubitus valgus), delayed puberty, and hypertension (due to associated coarctation or renal anomalies) is Turner syndrome (45,X or mosaic). Karyotype confirms the diagnosis. Growth hormone therapy improves adult height. Oestrogen replacement is needed for pubertal induction.

Reference: RCH Melbourne – 2023 – Short Stature CPG; RACP Paediatric Curriculum – Endocrine/Genetics