The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Genetic Syndromes of Severe Insulin Resistance
Open accessAbstract
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
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Leptin-Replacement Therapy for Lipodystrophy
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Cited by
Diamanti-Kandarakis, E., & Dunaif, A. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1034 · Cited by 1,947
Insulin resistance and cancer risk: An overview of the pathogenetic mechanisms
Arcidiacono, B., Iiritano, S., Nocera, A., Possidente, K., Nevolo, M. T., Ventura, V., Foti, D., Chiefari, E., & Brunetti, A. (2012) · Experimental Diabetes Research · doi:10.1155/2012/789174 · Cited by 606
Causes, Characteristics, and Consequences of Metabolically Unhealthy Normal Weight in Humans
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Impaired adipogenesis and dysfunctional adipose tissue in human hypertrophic obesity
Hammarstedt, A., Gogg, S., Hedjazifar, S., Nerstedt, A., & Smith, U. (2018) · Physiological Reviews · doi:10.1152/physrev.00034.2017 · Cited by 462
Hattersley, A. T., Greeley, S. A. W., Polak, M., Rubio-Cabezas, O., Njølstad, P. R., Mlynarski, W., Castano, L., Carlsson, A., Raile, K., Chi, D. V., et al. (2018) · Pediatric Diabetes · doi:10.1111/pedi.12772 · Cited by 319
Metadata
- Authors
- Semple, R. K., Savage, D. B., Cochran, E. K., Gorden, P., & O'Rahilly, S.
- Venue
- Endocrine Reviews
- Publisher
- The Endocrine Society
- Published
- 2011-05-02
- Volume
- 32
- Issue
- 4
- Pages
- 498-514
- ISSN
- 0163-769X (ISSN-L)
- 1945-7189
- OpenAlex
- W2059717716
- Cited by
- 358
- References
- 18
- FWCI
- 11.89
- Type
- journal article
- Language
- en
- Open access
- bronze
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