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

E SoubryKarel David Ann Swillen Elfi VergaelenM Docx Op de BeeckM HulsmansSara Charleer Brigitte Decallonne

Published in: Journal of endocrinological investigation (2024)

Hypoparathyroidism, 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.

Keyphrases

metabolic syndrome
insulin resistance
weight loss
type diabetes
weight gain
case report
replacement therapy
skeletal muscle