The Journal of Clinical Endocrinology & Metabolism · 1968 · 111 citations · 0 references
Life SciencesEndocrinologyGeneticsEndocrine GeneticsHuman GeneticsMedical GeneticsFamily-based Genetic AnalysisGenetic DisordersGenetic SyndromesInherited Endocrine SyndromesMendelian DisordersParathyroid GeneticsAttributesClinical HeterogeneityFamilial SyndromesGenetic Heterogeneity AnalysisHereditary HypoparathyroidismInheritance Pattern AnalysisInherited Disorder PedigreesMendelian Inheritance Analysis
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.