Osteogenesis imperfecta — SCE Endocrinology MCQ

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ModerateCalcium/BoneOsteogenesis imperfectaSCE Endocrinology

A 28-year-old woman has recurrent fractures and blue sclerae. Her father had multiple fractures. Calcium, phosphate, PTH and ALP are normal. What is the most likely diagnosis?

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Correct answer: C — Osteogenesis imperfecta

Recurrent fractures with blue sclerae and family history suggests osteogenesis imperfecta, a collagen disorder. Normal mineral biochemistry argues against osteomalacia and hyperparathyroidism. Genetic counselling and specialist bone review are appropriate.

Reference: Endocrine Society Bone Health Guidance