Multiple endocrine neoplasia syndromes 1 and 2: manifestations and management in childhood and adolescence

Arch Dis Child. 2015 Oct;100(10):994-9. doi: 10.1136/archdischild-2014-307028. Epub 2015 Apr 8.

Abstract

The identification of the genetic causes of the multiple endocrine neoplasia (MEN) syndromes 1 and 2, and associated genotype-phenotype relationships, has revolutionised the clinical care of affected patients. A genetic diagnosis can be made during infancy and careful clinical surveillance, coupled with early intervention, has the potential to improve both morbidity and mortality. These developments have seen the management of patients with MEN move into the arena of paediatric medicine. In this review article, we consider the genetic causes of MEN together with the clinical manifestations and management of these syndromes.

Keywords: Endocrinology; Genetics; Oncology; Screening.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Genetic Testing
  • Humans
  • Multiple Endocrine Neoplasia / diagnosis
  • Multiple Endocrine Neoplasia / genetics*
  • Multiple Endocrine Neoplasia / therapy
  • Mutation