Year: 2011
Type: review
Abstract: Insulin resistance is among the most prevalent endocrine derangements in the world, and it is closely associated with major diseases of global reach including diabetes mellitus, atherosclerosis, nonalcoholic fatty liver disease, and ovulatory dysfunction.It is most commonly found in those with obesity but may also occur in an unusually severe form in rare patients with monogenic defects.Such patients may loosely be grouped into those with primary disorders of insulin signaling and those with defects in adipose tissue development or function (lipodystrophy).The severe insulin resistance of both subgroups puts patients at risk of accelerated complications and poses severe challenges in clinical management.However, the clinical disorders produced by different genetic defects are often biochemically and clinically distinct and are associated with distinct risks of complications.This means that optimal management of affected patients should take into account the specific natural history of each condition.In clinical practice, they are often underdiagnosed, however, with low rates of identification of the underlying genetic defect, a problem compounded by confusing and overlapping nomenclature and classification.We now review recent developments in understanding of genetic forms of severe insulin resistance and/or lipodystrophy and suggest a revised classification based on growing knowledge of the underlying pathophysiology.(Endocrine Reviews 32: 498 -514, 2011) I. Introduction II.Definition and Prevalence of Severe IR III.Generic Clinical Features of Severe IR A. Abnormal glucose homeostasis B. Ovarian dysfunction C. Acanthosis nigricans IV.Clinical Features Limited to Some Severe IR Subtypes A. Dyslipidemia and hepatic steatosis B. Abnormal adipose development or topography C. Growth disorders V. Sexual Dimorphism in Severe IR VI. Biochemical Subphenotyping of Severe IR VII.Monogenic IR Classification/Nomenclature VIII.The INSR Spectrum IX.Downstream Insulin
Source: Endocrine Reviews
DOI: 10.1210/er.2010-0020
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Awards: Insulin Resistance: Lessons from Extreme Phenotypes., LIPODYSTROPHY-A PARADIGM FOR ELUCIDATING PATHOGENIC MECHANISMS IN THE METABOLIC SYNDROME., Molecular mechanisms in human insulin resistance., G301560378, G4096182136, Insulin Resistance: Lessons from Extreme Phenotypes., Clinical, Cellular, and Molecular Characterisation of Novel Syndromes of Abnormal Growth and Insulin Action., G8585681489
OpenAlex ID: W2059717716