title: Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1alpha gene.
abstract: OBJECTIVE
  The aim of our study was to describe and evaluate the clinical and metabolic characteristics of patients with MODY-3, MODY-2 or type 2 diabetes who presented I27L polymorphism in the HNF1alpha gene.
  
  
  METHODS
  The study included 31 previously diagnosed subjects under follow-up for MODY-3 (10 subjects from 5 families), MODY-2 (15 subjects from 9 families), or type 2 diabetes (6 subjects) with I27L polymorphism in the HNF1alpha gene. The demographic, clinical, metabolic, and genetic characteristics of all patients were analyzed.
  
  
  RESULTS
  No differences were observed in distribution according to sex, age of onset, or form of diagnosis. All patients with MODY-2 or MODY-3 had a family history of diabetes. In contrast, 33.3% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1alpha gene had no family history of diabetes (p < 0.05). No differences were observed in body mass index, prevalence of hypertension, or microvascular or macrovascular complications. Drug therapy was required by 100% of MODY-3 patients, but not required by 100% of MODY-2 patients or 16.7% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1alpha gene (p < 0.05).
  
  
  CONCLUSIONS
  Occasional difficulties may be encountered when classifying patients with MODY-2, MODY-3 or type 2 diabetes of atypical characteristics, in this case patients who present I27L polymorphism in the HNF1alpha gene.
authors.affiliation: Sección de Endocrinología y Nutrición, Complejo Hospitalario Universitario de Albacete, Albacete, España. pjpines@sescam.jccm.es
authors.forename: Pedro José
authors.initials: PJ
authors.lastname: Pinés Corrales
authors.forename: María P
authors.initials: MP
authors.lastname: López Garrido
authors.forename: Silvia
authors.initials: S
authors.lastname: Aznar Rodríguez
authors.forename: Lynda
authors.initials: L
authors.lastname: Louhibi Rubio
authors.forename: Luz M
authors.initials: LM
authors.lastname: López Jiménez
authors.forename: Cristina
authors.initials: C
authors.lastname: Lamas Oliveira
authors.forename: Jose J
authors.initials: JJ
authors.lastname: Alfaro Martínez
authors.forename: Jose J
authors.initials: JJ
authors.lastname: Lozano García
authors.forename: Antonio
authors.initials: A
authors.lastname: Hernández López
authors.forename: Ramón
authors.initials: R
authors.lastname: Requejo Castillo
authors.forename: Julio
authors.initials: J
authors.lastname: Escribano Martínez
authors.forename: Francisco
authors.initials: F
authors.lastname: Botella Romero
mesh_terms: D000293:Adolescent; D000328:Adult; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha