Endocrine aspects of the 22q11.2 deletion syndrome

Abstract

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 in patients with a 22q11.2 deletion.