Hormonal disorders are common in patients with a 22q11. 2 deletion. While
hypoparathyroidism was the first endocrine disturbance documented in the DiGeorge
syndrome, growth hormone deficiency, hypothyroidism, and hyperthyroidism are now known
to occur in patients with a 22q11. 2 deletion. This review briefly summarizes our current
understanding of the spectrum of endocrinological manifestations of the 22q11. 2 deletion
and proposes guidelines for appropriate screening and management of endocrine disorders …