Familial Pseudohypoparathyroidism

Abstract

In the second reported occurrence of a kindred with familial pseudohypoparathyroidism occurring in two successive generations parathyroid hormone, measured by radioimmunoassay in peripheral venous plasma, was elevated in all of three patients. In one, parathyroid hormone was measured in high concentration in thyroid venous plasma, with normal levels of parathyroid hormone in the parathyroid glands and very high concentrations of thyrocalcitonin in excised thyroid tissue. In one patient surgical and radioactive ablation of the thyroid gland failed to ameliorate the hypocalcemia, suggesting that excessive thyrocalcitonin secretion is not a primary factor in the etiology of this syndrome. These findings support Albright's original hypothesis that end-organ refractoriness to parathyroid hormone is the fundamental defect in pseudohypoparathyroidism.