Hypoparathyroidism screening

There is insufficient evidence to recommend routine screening for hypoparathyroidism. However, a significant number of patients of isolated idiopathic hypoparathyroidism with hypercalciuria may have a de novo calcium-sensing receptor (CASR) gene mutation. Molecular screening of CASR gene in patients with isolated idiopathic hypoparathyroidism with hypercalciuria is recommended during initial work-up as it has potentially important clinical relevance to the patient’s prognosis.

• There is insufficient evidence to recommend routine screening for hypoparathyroidism.
• However, a significant number of patients of isolated idiopathic hypoparathyroidism with hypercalciuria may have a de novo calcium-sensing receptor (CASR) gene mutation.^[1]
• All patients require treatment with vitamin D3 supplementation for correction of hypocalcemia.
• As vitamin D3 supplementation may precipitate prolonged episode of hypercalciuria, the treatment decision should be evaluated on an individual basis in asymptomatic or mildly symptomatic patients.
• Molecular screening of CASR gene in patients with isolated idiopathic hypoparathyroidism with hypercalciuria is recommended during initial work-up as it has potentially important clinical relevance to the patient’s prognosis.^[2]

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