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ea0012p46 | Diabetes, metabolism and cardiovascular | SFE2006

A novel syndrome of extreme insulin resistance, primordial dwarfism, and gonadal failure

Semple RK , Finucane F , O’Driscoll M , Regan FM , Soos MA , Stutchfield PR , Davies JH , Dunger DB , Jeggo PA , Nolan JJ , O’Rahilly S

Single gene defects causing severe insulin resistance have been elucidated either by directed screening of candidate genes (INSR, AKT2, PPARG) or by detailed linkage mapping in large pedigrees (BSCL2, AGPAT2, LMNA), and study of patients harbouring these known defects continues to yield important insights into insulins action in health and disease. However a large proportion of the genetic defects leading to severe insulin resistance in slim subjects remains undiscovered...

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ea0011p361 | Diabetes, metabolism and cardiovascular | ECE2006

Insulin receptoropathies are distinguished from other syndromes of severe insulin resistance by elevated plasma adiponectin levels

Semple RK , Soos MA , Mitchell CM , Wilson JC , Luan J , Cochran EK , Wareham NJ , Gorden P , Chatterjee VKK , O’Rahilly S

Leptin and adiponectin are cytokine-like hormones secreted by white adipose tissue. Plasma leptin correlates closely with total body fat mass, and its secretion is positively regulated by insulin in vivo and in vitro. Hypoleptinaemia is a key centrally-mediated orexigenic stimulus. Plasma adiponectin, in contrast, correlates negatively with whole body fat mass and insulin resistance in adults, and its expression is regulated negatively by insulin in vivo a...

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Endocrine Abstracts

A novel syndrome of extreme insulin resistance, primordial dwarfism, and gonadal failure

Insulin receptoropathies are distinguished from other syndromes of severe insulin resistance by elevated plasma adiponectin levels

BiosciAbstracts