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Turner syndrome — RACP Paediatrics MCQ

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ModerateEndocrinology and growthTurner syndromeRACP Paediatrics

A 13-year-old girl is short with delayed puberty. She has a webbed neck, widely spaced nipples and a history of neonatal pedal oedema; blood pressure is elevated in the right arm. What is the most appropriate investigation?

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Correct answer: D — Karyotype with echocardiography and renal ultrasound assessment

Turner syndrome is suggested by short stature, delayed puberty, lymphoedema history and possible coarctation; karyotype confirms the diagnosis and cardiac/renal screening is needed. Growth hormone testing is not the first diagnostic step when Turner features are present. The pearl is that any girl with unexplained short stature should be considered for Turner syndrome even without classic stigmata.

Reference: RCH Clinical Practice Guidelines; Therapeutic Guidelines (eTG): Endocrinology