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[Monogenic severe insulin resistance syndromes]
D Vincent-Desplanques1, F Faivre-Defrance, J L Wémeau
1Service d'endocrinologie et métabolismes, 6, rue du Pr Laguesse, centre hospitalier-universitaire, 59037 Lille cedex, France.
La Revue De Medecine Interne
|May 24, 2005
Summary
Monogenic insulin resistance syndromes, often presenting with early-onset insulin resistance and lipodystrophy, are rare genetic disorders. Advances in phenotyping and genotyping improve understanding of these conditions and related mechanisms.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Diseases
Context:
- Extreme insulin resistance syndromes are rare, mimicking metabolic syndrome.
- Key conditions include polycystic ovary syndrome, non-alcoholic liver steatosis, acanthosis nigricans, and lipoatrophic syndromes.
- Genetic forms involve insulin receptor gene mutations or lipoatrophy-linked mutations.
Purpose:
- To highlight monogenic insulin resistance syndromes.
- To discuss their clinical and genetic characteristics.
- To emphasize the importance of early identification.
Summary:
- Monogenic insulin resistance syndromes, characterized by extreme insulin resistance, can be linked to insulin receptor gene mutations (Type A, leprechaunism, Rabson-Mendenhall) or lipoatrophy-associated genes (Berardinelli-Seip, Dunnigan, Köbberling).
- Early onset of insulin resistance, particularly with lipodystrophy, strongly suggests a monogenic cause.
- Advances in phenotyping and genotyping are crucial for understanding these syndromes.
Impact:
- Improved understanding of insulin resistance, atherosclerosis, and aging mechanisms.
- Potential for enhanced therapeutic strategies for monogenic insulin resistance.
- Highlights the significance of genetic diagnosis in rare metabolic disorders.