Abstract
This chapter discusses the mutations in the insulin receptor gene that have been identified in patients with genetic forms of insulin resistance. Two clinical features are commonly observed in patients with extreme insulin resistance irrespective of the biochemical mechanism which causes the insulin resistance: (1) acanthosis nigricans, which is a hyperkeratotic hyperpigmented skin lesion, and (2) hyperandrogenism, which is a clinical sign that is commonly observed in premenopausal women with extreme insulin resistance as a result of increased ovarian production of testosterone. The pathway of insulin receptor biosynthesis is complex and involves transcription of the gene, translation of the mRNA, and multiple posttranslational modifications. After the completion of biosynthesis, the mature receptor molecule is transported to the cell surface for insertion into the plasma membrane. Defects have been described that impair many of these steps and thereby lead to reduction in the number of insulin receptors on the cell surface. The chapter explains clinical syndromes of extreme insulin resistance. The chapter discusses two types of syndromes: (1) genetic type A insulin resistance including lipoatrophic diabetes, leprechaunism, and Rabson–Mendenhall and (2) autoimmune type B insulin resistance.
Published Version
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