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Hypoparathyroidism – DiGeorge — RACP Paediatrics MCQ

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HardEndocrineHypoparathyroidism – DiGeorgeRACP Paediatrics

A 2-year-old with DiGeorge syndrome (22q11.2 deletion) has recurrent hypocalcaemic seizures. PTH is undetectable. Calcium is 1.6 mmol/L. Phosphate is elevated. What is the most appropriate ongoing management after acute stabilisation?

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Correct answer: C — Calcitriol (1,25-dihydroxyvitamin D)

Hypoparathyroidism in DiGeorge syndrome causes hypocalcaemia with hyperphosphataemia and absent PTH. Long-term management requires calcitriol (active vitamin D) and oral calcium supplementation. Calcitriol bypasses the need for PTH-mediated renal 1-alpha hydroxylation of vitamin D, which is impaired in hypoparathyroidism.

Reference: RCH Melbourne – 2023 – Hypocalcaemia CPG; RACP Paediatric Curriculum – Endocrine