title: Family history in the diagnosis of monogenic diabetes "leads and misleads".
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.
authors.affiliation: Servei d' Endocrinologia i Nutriciό, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Colom
authors.forename: Josep
authors.initials: J
authors.lastname: Oriola
authors.forename: Silvia
authors.initials: S
authors.lastname: Martínez
authors.forename: Francisco
authors.initials: F
authors.lastname: Blanco-Vaca
authors.forename: Roser
authors.initials: R
authors.lastname: Casamitjana
authors.forename: Rosa
authors.initials: R
authors.lastname: Corcoy
mesh_terms: D000328:Adult; D001724:Birth Weight; D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000235:genetics; D003951:Diagnostic Errors; D005190:Family; D005260:Female; D017353:Gene Deletion; D005941:Glucokinase / Q000235:genetics; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta; D005941:Glucokinase