22q11.2 deletion-associated hypoparathyroidism — SCE Endocrinology MCQ

Instant feedback + full explanation. One question, done properly.

HardReproductive endocrinology22q11.2 deletion-associated hypoparathyroidismSCE Endocrinology

A 43-year-old woman with repaired tetralogy of Fallot has hypocalcaemic seizures. Calcium is 1.62 mmol/L, phosphate 2.1 mmol/L and PTH is low. She has recurrent sinus infections and mild learning difficulty. What is the most likely diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: B — 22q11.2 deletion syndrome with hypoparathyroidism

22q11.2 deletion syndrome with hypoparathyroidism is best because congenital cardiac disease, infections and low-PTH hypocalcaemia suggest 22q11.2 deletion with hypoparathyroidism. The alternatives are less appropriate because hyperparathyroidism, MEN1 and FHH cause high or inappropriately normal PTH with hypercalcaemia; vitamin D intoxication also causes hypercalcaemia. The SCE teaching point is to integrate the clinical pattern, biochemistry and context rather than treating an isolated result.

Reference: Endocrine Society hypoparathyroidism guidance