title: [Monogenic severe insulin resistance syndromes].
abstract: OBJECTIVE
  To make a point about monogenic insulin resistance syndromes.
  
  
  BACKGROUND
  Extreme insulin resistance syndromes are rare entities. The clinical and biological presentation is similar to that one of metabolic syndrome. Polycystic ovaries syndrome, non-alcoholic liver steatosis, acanthosis nigricans and overall, lipo-atrophic syndrome must be sought. Genetically determined forms are mainly linked to mutations of the insulin receptor gene and to lipoatrophic syndrome-linked mutations. The three syndromes related to mutations of the insulin receptor gene are Type A syndrome, first described by Kahn in young women, whereas leprechaunism and Rabson-Mendenhall syndromes are of neonatal onset. Main insulin resistance syndromes associated with lipo-atrophy are 1) Berardinelli-Seip or congenital generalized lipo-atrophic syndrome linked to mutations of seipin or AGPAT2 gene, 2) Dunnigan or partial familial lipoatrophic syndrome linked to mutations of lamin A/C, or sometimes PPAR gamma gene, and 3) acro-mandibular dysplasia and Köbberling syndrome.
  
  
  CONCLUSIONS
  In conclusion, an early onset of insulin resistance, especially in association with lipodystrophy must suggest a monogenic insulin resistance syndrome. Outstanding advances in insulin resistance pheno- and genotype identification, despite incomplete yet, offers a better understanding of insulin resistance, atherosclerosis and ageing mechanisms, that should lead to therapeutic improvement.
authors.affiliation: Service d'endocrinologie et métabolismes, 6, rue du Pr Laguesse, centre hospitalier-universitaire, 59037 Lille cedex, France.
authors.forename: D
authors.initials: D
authors.lastname: Vincent-Desplanques
authors.forename: F
authors.initials: F
authors.lastname: Faivre-Defrance
authors.forename: J L
authors.initials: JL
authors.lastname: Wémeau
authors.forename: M C
authors.initials: MC
authors.lastname: Vantyghem
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D009154:Mutation; D011379:Prognosis; D011972:Receptor, Insulin / Q000235:genetics*; D013577:Syndrome
chemical_list: D011972:Receptor, Insulin