Genetic disorders involving parathyroid hormone and calcitonin

There are several genetic disorders that cause abnormalities in the hormonal regulation of calcium metabolism. These include familial hyperparathyroidism, multiple endocrine adenomatosis, pseudohypoparathyroidism and kindreds with multiple cases of medullary carcinoma of the throid. The clinical characteristics of these several syndromes are outlined. Several tests of endocrine function, either determination of hormone secretory rates or biochemical manifestations of the action of hormones, are helpful in delineating genetic modes of transmissions of these disorders. radioimmunoassays are becoming important adjuncts in the diagnosis of hyperparathyroidism and medullary carcinoma of the thyroid. Determination of 3',5'-adenosine monophosphate in urine in response to parathyroid hormone allows accurate diagnosis of pseudohypoparathyroidism.