Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4142643 | Anales de Pediatría | 2011 | 5 Pages |
Abstract
The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion.
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Authors
J. Guerrero Fernández, C. Labrandero de Lera, I. González Casado, R. Gracia Bouthelier,