Endocrine features of 22q11.2 deletion syndrome

Endocrine disturbances are common in patients with 22q11.2 deletion syndrome. The most common endocrine abnormality is hypoparathyroidism with resulting hypocalcemia that can either be permanent or intermittently brought on by stressful physical conditions. Other hormonal disturbances include hypothyroidism/hyperthyroidism and growth hormone deficiency. While nongrowth hormone deficiency short stature is common in this population, as indicated by the newly developed 22q11.2 deletion syndrome specific growth curves, the incidence of growth hormone deficiency is nevertheless higher among the patients with 22q11.2 deletion syndrome than in the general population. Screening for these endocrine disturbances should be performed periodically in patients with this chromosomal deletion. Screening should include periodic calcium checks, especially at times of illnesses or procedures; periodic growth monitoring with subsequent GH evaluation if growth deficiency is severe; and annual thyroid laboratory screening.