Chapter

Genetics of severe insulin resistance

Robert K. Semple, David B. Savage and Stephen O’Rahilly

in Oxford Textbook of Endocrinology and Diabetes

Second edition

Published on behalf of Oxford University Press

ISBN: 9780199235292
Published online July 2011 | e-ISBN: 9780199608232 | DOI: http://dx.doi.org/10.1093/med/9780199235292.003.1355

Series: Oxford Textbooks

Genetics of severe insulin resistance

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As the prevalence of obesity burgeons, so the prevalence of insulin resistance follows. A small minority of patients have severe insulin resistance without obesity. These patients, while not contributing significantly to the general prevalence of diabetes, often harbour pathogenic single gene defects affecting insulin signalling or adipose tissue function. Clinical history and examination may offer strong clues to the presence of severe insulin resistance, but laboratory confirmation should usually be sought. Biochemical diagnostic thresholds for severe insulin resistance are arbitrary, and should, ideally, be defined relative to BMI-adjusted population normal ranges (Fig. 13.3.5.1). However, one set of approximate diagnostic criteria is as follows: ◆ non-diabetic and BMI under 30 kg/m2—fasting insulin above 150 pmol/l OR peak insulin on oral glucose tolerance testing above 1500 pmol/l ◆ absolute insulin deficiency and BMI under 30 kg/m2—exogenous insulin requirement above 3 U/kg/day ◆ partial β cell decompensation and/or BMI over 30 kg/m2—insulin levels are difficult to interpret in the context of obesity, while, in diabetes, glucotoxicity, impaired islet function, and a combination of endogenous and exogenous insulin in the circulation confuse the biochemical picture. In this setting, the clinical history and features such as acanthosis nigricans assume particular importance in making a diagnosis of likely monogenic severe insulin resistance, with subjective clinical judgement often required.

Chapter.  3319 words.  Illustrated.

Subjects: Endocrinology and Diabetes

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