Abstract
The association of glucose intolerance with a number of distinct genetic syndromes due to mutations at different loci adds great support to the hypothesis that diabetes mellitus represents a heterogeneous group of disorders (66,69). Although these syndromes comprise only a small minority of the cases of diabetes mellitus, they illustrate the wide variety of pathogenetic mechanisms that can resulting lucose intolerance. It must be stressed that the majority of these syndromes simply result in an abnormal glucose tolerance test without any of the clinical features of diabetes mellitus, but this is also true of a large percentage of the cases of so-called idiopathic diabetes mellitus. Thus, in defining the abnormality of carbohydrate metabolism in the various types of glucose intolerance, the presence or absence of clinical symptomatology and specific complications must be delineated, rather than lumping all types of glucose in tolerance under the heading of diabetes mellitus. In this discussion, the term “diabetes” will be used only when the clinical syndrome, rather than uncomplicated glucose intolerance, is present. The more than 35 genetic syndromes associated with glucose intolerance will be discussed below and an attempt will be made to classify them either on the basis of the type of pathogenetic mechanism resulting in the abnormality in glucose tolerance or on the basis of the associated anomalies (Table1).
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Rimoin, D.L. (1976). Genetic Syndromes Associated with Glucose Intolerance. In: Creutzfeldt, W., Köbberling, J., Neel, J.V. (eds) The Genetics of Diabetes Mellitus. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-66332-1_7
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