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Turner syndrome — RACP Paediatrics MCQ

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ModerateEndocrinology and growthTurner syndromeRACP Paediatrics

A 13-year-old girl is referred for short stature and absent pubertal development. She has a wide carrying angle, shield chest and history of neonatal lymphoedema. FSH is elevated. What is the most likely cause?

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Correct answer: C — Gonadal dysgenesis due to Turner syndrome

Short stature, primary ovarian insufficiency and characteristic physical features point to Turner syndrome with gonadal dysgenesis. Constitutional delay usually has low or prepubertal gonadotrophins rather than elevated FSH. Karyotype confirmation is important because diagnosis triggers cardiac, renal and hearing surveillance.

Reference: RACP Knowledge Guides; Australian growth assessment guidance