• 作者：J. Guerrero Ferná ; ndez^a ; ^{jguerrerof@yahoo.es} ; C. Labrandero de Lera^b ; I. Gonzá ; lez Casado^a ; R. Gracia Bouthelier^a
• 关键词：Deleció ; n 22q11.2 ; Sí ; ndrome de DiGeorge ; Diabetes mellitus tipo 1 ; Facies asimé ; trica con el llanto ; Manifestaciones endocrinoló ; gicas
• 刊名：Anales de Pediatr¨ªa
• 出版年：2011
• 出版时间：May 2011
• 年：2011
• 卷：74
• 期：5
• 页码：327-331
• 全文大小：221 K

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.