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Turner syndrome — SCE Endocrinology MCQ

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EasyReproductive EndocrinologyTurner syndromeSCE Endocrinology

A 16-year-old girl has primary amenorrhoea and short stature. Examination shows widely spaced nipples and cubitus valgus. FSH is 68 IU/L and karyotype is 45,X. What is the most likely diagnosis?

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Correct answer: D — Turner syndrome

Short stature, typical physical features, hypergonadotropic hypogonadism and 45,X confirm Turner syndrome. Kallmann syndrome causes low gonadotrophins and anosmia. Turner syndrome requires cardiac, renal, hearing and metabolic surveillance.

Reference: Endocrine Society Turner Syndrome Guideline