Abnormally elevated plasma levels of parathyroid hormone (PTH) define hyperparathyroidism. The cause is hyperfunction of one or more parathyroid glands or ectopic parathyroid hormone production.
Hyperparathyroidism can be classified into primary, secondary, and tertiary forms. Only in primary hyperparathyroidism a mutated gene may be the cause. Secondary hyperparathyroidism results from prolonged hypocalcaemia or vitamin D deficiency as it occurs most often in chronic renal failure. In secondary hyperparathyroidism, there may exist a genetic disposition, however. The same perhaps holds true in tertiary hyperparathyroidism, in which after prolonged secondary hyperparathyroidism, an autonomous gland function develops.