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.
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.