Family history in the diagnosis of monogenic diabetes "leads and misleads"

Cristina Colom, Josep Oriola, Silvia Martínez, Francisco Blanco-Vaca, Roser Casamitjana, Rosa Corcoy

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Always granting that de novo mutations are possible, family history and biological characteristics are nonetheless crucial for the diagnosis of monogenic diabetes. We report here the case of two patients with monogenic diabetes in which the initial family history misled the diagnostic work-up and did not support the diagnosis. Family history details changed substantially after the molecular diagnosis was established.
Original languageEnglish
Pages (from-to)466-469
JournalHormones
Volume12
Issue number3
Publication statusPublished - 1 Jul 2013

Keywords

  • Family history
  • Glucokinase
  • Hepatic nuclear factor-1ß
  • Monogenic diabetes

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