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The expression "inborn errors of metabolism," coined by Garrod in 1908, was a harbinger of the close association that followed between genetic research and the study of "metabolic" disorders. In contrast, endocrinologists have traditionally focused on hormone action, control of hormone production, and the clinical features of hormone hyposecretion or hypersecretion. This is not to say that the familial nature of many endocrinopathies escaped recognition. Rather, because Mendelian patterns of inheritance were not apparent, it was not certain if familial clustering was due to genetic or environmental factors.
In the past decade, steady progress has been made in establishing a genetic basis for a large number of endocrinopathies. As is the rule in scientific progress, this advance had its origins in seemingly unrelated fields. Immunologic research led to the discovery that the surface of lymphocytes contained genetically controlled proteins. Tissue transplantation studies established that these antigen proteins, when similar between
Emerson CH. HLA in Endocrine and Metabolic Disorders. JAMA. 1982;248(8):994. doi:10.1001/jama.1982.03330080068042
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