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Parathyroid Glands: Genetic link for primary hyperparathyroidism

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Is there a genetic link for primary hyperparathyroidism?

The great majority (>95%) of people with primary hyperparathyroidism have sporadic disease, which means that the disease occurred by chance. In a small number of people, primary hyperparathyroidism can be part of a familial (inherited) syndrome. The most common of these genetic syndromes are multiple endocrine neoplasia (MEN) type 1 and type 2. Patients with MEN-1 develop tumors of the pituitary, parathyroid, and pancreas (often remembered as "the three P's"). Primary hyperparathyroidism is frequently the first problem to occur in MEN-1, with patients commonly being affected in their twenties or thirties. The pituitary and pancreas tumors associated with MEN-1 do not always produce abnormal hormone levels, but when they do they can cause a number of different diseases, including Cushing's syndromeCushing's Syndrome - a disease where the body produces too much steroid, galactorrheaGalactorrhea - a disease in which too much prolactin is produced, gigantismGigantism - a disease in which too much growth hormone is produced, peptic ulcer diseasePeptic ulcer disease - ulcers of the intestines, and hypoglycemiaHypoglycemia - low blood sugars. Primary hyperparathyroidism occurs in about one-third of patients with MEN-2. MEN-2 is characterized by medullary thyroid cancer and pheochromocytoma (an adrenaline-producing tumor of the adrenal glands). There are other mutations that cause familial hyperparathyroidism alone, without causing tumors of the other endocrine glands, but these conditions are extremely rare. Patients with a familial syndrome often have four hyperactive glands called four gland hyperplasia.


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