Insulin receptor defects syndrome

We have also come to understand that many complex diseases such as diabetes, polycystic ovary syndrome,385 Crohn s disease (inflammatory bowel disease),386 and schizophrenia are in fact multiple diseases. Diabetes is a syndrome that can arise from causes such as defective insulin receptors or defective glucose transporters or from as yet unknown metabolic problems (Chapter 17).387 Many cancers have a... 

Clinical Syndromes Associated with Cellular Defects in Insulin Receptor... 

Leprechaunism is a rare and fatal congenital syndrome of extreme insulin resistance resulting from inherited defects of the insulin receptor. Associated growth retardation and multiple somatic abnormalities may be due to coexistent resistance to other growth factors. 

Several genetic mutations have been described in the insuhn receptor and are associated with insulin resistance. Type A insuhn resistance refers to the clinical syndrome of acanthosis nigricans, virilization in women, polycystic ovaries, and hyperinsulinemia. Leprechaunism is a pediatric syndrome with specific facial features and severe insulin resistance due to a defect in the insuhn receptor gene. Lipoatrophic diabetes probably results from postreceptor defects in insulin signaling. 

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