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

摘要

SummaryChromosome 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.