Endocrine aspects of the 22q11.2 deletion syndrome.

Abstract excerpt

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...

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