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Turner syndrome — SCE Endocrinology MCQ

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ModerateReproductive endocrinologyTurner syndromeSCE Endocrinology

A 19-year-old woman has primary amenorrhoea. She is 148 cm tall with a wide carrying angle and widely spaced nipples. FSH is 72 IU/L and oestradiol is low. Pelvic ultrasound shows a small uterus. What is the most appropriate next investigation?

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Correct answer: A — Karyotype analysis

Karyotype analysis is best because short stature with hypergonadotrophic hypogonadism and Turner stigmata requires karyotype confirmation. The alternatives are less appropriate because dexamethasone and urinary cortisol test Cushing's; ACTH-stimulated 17-hydroxyprogesterone tests CAH; pituitary MRI is not first-line when gonadotrophins are high. The SCE teaching point is to integrate the clinical pattern, biochemistry and context rather than treating an isolated result.

Reference: Endocrine Society Turner syndrome guidance