Autosomal Recessive Inheritance of Familial Hyperparathyroidism

Abstract

THERE have been more than 30 reports of the familial occurrence of isolated hyperparathyroidism since Goldman's original observation in 1936.1 Many of these families were described before characterization of the multiple endocrine neoplasia syndromes and before the widespread application of serum calcium determinations and hormonal radioimmunoassays, so that distinction of the multiple endocrine neoplasia syndromes from isolated familial hyperparathyroidism is not possible on the basis of the published data. However, available data have suggested that familial hyperparathyroidism is transmitted by an autosomal dominant mechanism.2 3 4 5 6 7 8 9 10 11 12 We have recently studied a large family in which three young adults acquired adenomatous hyperparathyroidism, which . . .