Clinical and Genetic Heterogeneity in Idiopathic Addison's Disease and Hypoparathyroidism

Abstract
An analysis has been made of data from 140 families containing patients with Addison's disease without hypoparathyroidism, Addison's disease with hypoparathyroidism, and hypoparathyroidism alone. The analysis shows significantly greater similarity of clinical and other attributes among affected persons within the families than among unrelated persons. This suggests that there are several categories distinct in origin and in characteristics. Some these classes are apparently genetically determined and the distributions of affected persons are compatible with the autosomal recessive pattern. Others do not fit any mendelian pattern even while containing families with more than one affected person. This observation suggests additional heterogeneity.

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