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Hormones

, Volume 12, Issue 3, pp 466–469 | Cite as

Family history in the diagnosis of monogenic diabetes “leads and misleads”

  • Cristina Colom
  • Josep Oriola
  • Silvia Martinez
  • Francisco Blanco-Vaca
  • Roser Casamitjana
  • Rosa Corcoy
Case report

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.

Key words

Family history Glucokinase Hepatic nuclear factor-1β Monogenic diabetes 

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Copyright information

© Hellenic Endocrine Society 2013

Authors and Affiliations

  • Cristina Colom
    • 1
  • Josep Oriola
    • 2
  • Silvia Martinez
    • 3
  • Francisco Blanco-Vaca
    • 3
    • 4
    • 5
  • Roser Casamitjana
    • 2
  • Rosa Corcoy
    • 1
    • 6
    • 7
  1. 1.Servei d’Endocrinologia i NutriciöHospital de la Santa Creu i Sant PauBarcelonaSpain
  2. 2.Servei de Bioquímica i Genètica Molecular (CDB), Institut d’Investigacions Biomèdiques August Pi i SunyerHospital Clinic i UniversitariBarcelonaSpain
  3. 3.Servei de Bioquimica ClinicaHospital de la Santa Creu i Sant PauBarcelonaSpain
  4. 4.Departament de Bioquímica i Biologia MolecularUniversitat Autònoma de BarcelonaBarcelonaSpain
  5. 5.CIBERDEMInstituto de Salud Carlos IIIMadridSpain
  6. 6.Departament de MedicinaUniversitat Autònoma de BarcelonaBarcelonaSpain
  7. 7.CIBER Bioengineering, Biomaterials and NanotechnologyInstituto de Salud Carlos IIIMadridSpain

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