New classification and diagnostic criteria for insulin resistance syndrome

Endocr J. 2022 Feb 28;69(2):107-113. doi: 10.1507/endocrj.EJ21-0725. Epub 2022 Feb 1.

Abstract

This report of a working group established by the Japan Diabetes Society proposes a new classification and diagnostic criteria for insulin resistance syndrome. Insulin resistance syndrome is defined as a condition characterized by severe attenuation of insulin action due to functional impairment of the insulin receptor or its downstream signaling molecules. This syndrome is classified into two types: genetic insulin resistance syndrome, caused by gene abnormalities, and type B insulin resistance syndrome, caused by autoantibodies to the insulin receptor. Genetic insulin resistance syndrome includes type A insulin resistance as well as Donohue and Rabson-Mendenhall syndromes, all of which are caused by abnormalities of the insulin receptor gene; conditions such as SHORT syndrome caused by abnormalities of PIK3R1, which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of AKT2, TBC1D4, or PRKCE; and conditions in which a causative gene has not yet been identified. Type B insulin resistance syndrome is characterized by severe impairment of insulin action due to the presence of insulin receptor autoantibodies. Cases in which hypoglycemia alone is induced by autoantibodies that stimulate insulin receptor were not included in Type B insulin resistance syndrome.

Keywords: Insulin receptor; Insulin receptor autoantibodies; Type A insulin resistance syndrome; Type B insulin resistance syndrome.

MeSH terms

  • Diabetes Mellitus*
  • Donohue Syndrome* / genetics
  • Humans
  • Hypoglycemia*
  • Insulin Resistance* / genetics
  • Metabolic Syndrome* / diagnosis
  • Metabolic Syndrome* / genetics
  • Receptor, Insulin / genetics

Substances

  • Receptor, Insulin