[An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies]

J Guerrero Fernández; C Labrandero de Lera; I González Casado; R Gracia Bouthelier

doi:10.1016/j.anpedi.2011.01.025

[An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies]

An Pediatr (Barc). 2011 May;74(5):327-31. doi: 10.1016/j.anpedi.2011.01.025. Epub 2011 Mar 8.

[Article in Spanish]

Authors

J Guerrero Fernández¹, C Labrandero de Lera, I González Casado, R Gracia Bouthelier

Affiliation

¹ Servicio de Endocrinología Pediátrica, Hospital Infantil La Paz, Madrid, Spain. [email protected]

PMID: 21388900
DOI: 10.1016/j.anpedi.2011.01.025

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.

Publication types

Case Reports
English Abstract

MeSH terms

Adolescent
DiGeorge Syndrome / complications*
Endocrine System Diseases / etiology*
Female
Humans
Phenotype