Hypoparathyroidism associated with aneurysm of the left subclavian artery (Kommerell's diverticulum) in an adult patient with a chromosome 22q11.2 deletion

Hypoparathyroidism may either be acquired or of congenital origin. From the latter group, which represents a minority of cases, agenesis or hypoplasia of the parathyroid glands resulting in symptomatic hypocalcemia in the new born or infant frequently is caused by a microdeletion of chromosome 22q11. 2. We describe a man in whom hypoparathyroidism was first diagnosed at the age of 59 years. The endocrine disorder was found to be associated with thi s chromosome imbalance and also with an aneurysm of the left subclavian art ery (Kommerell's diverticulum) compressing the esophagus and trachea. Given the potential implication for genetic counseling, a 22q11.2 deletion shoul d be considered in the differential diagnosis of adult patients with hypopa rathyroidism of unknown origin and should be searched for by appropriate mo lecular cytogenetic technique.