Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood

Summary

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age.

Learning points:

It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery.

A new diagnosis of a hereditary disease has familial implications and needs genetic counselling.

It is also important to discard other syndrome's comorbidities.

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