Adolescente con síndrome de deleción 22q11.2 y endocrinopatía múltiple

• Autores: Julio Guerrero Fernández, C. Labrandero de Lera, Isabel González Casado, Ricardo Gracia Bouthelier
• Localización: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN-e 1696-4608, ISSN 1695-4033, Vol. 74, Nº. 5, 2011, págs. 327-331
• Idioma: español
• Títulos paralelos:
  • An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies
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• Resumen

  • 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.