Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study

ConclusionHypoparathyroidism, hypothyroidism, and obesity are common endocrine manifestations in patients with 22q11DS but are probably underdiagnosed and undertreated, indicating the need for multidisciplinary follow-up including an endocrinologist.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research