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Orthopaedics · Metabolic bone: pseudohypoparathyroidism
Sample itemA 12-year-old with a round face, short stature and short fourth and fifth metacarpals has low calcium, high phosphate and a raised parathyroid hormone. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Pseudohypoparathyroidism (Albright hereditary osteodystrophy)
In pseudohypoparathyroidism the tissues are resistant to parathyroid hormone, so calcium is low, phosphate is high and PTH is raised. Albright hereditary osteodystrophy comprises a round face, short stature, obesity and brachydactyly with short fourth and fifth metacarpals. Treatment is with calcium and active vitamin D.
Option by option
A. Hypothyroidism
Hypothyroidism does not cause hypocalcaemia with high PTH.
B. Vitamin D deficiency rickets
Vitamin D deficiency rickets gives low phosphate and does not cause brachydactyly.
C. Primary hyperparathyroidism
Primary hyperparathyroidism causes high calcium and low phosphate.
D. Pseudohypoparathyroidism (Albright hereditary osteodystrophy) (correct)
Correct. Hypocalcaemia with high PTH and short fourth and fifth metacarpals indicates pseudohypoparathyroidism.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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