U.S. Department of Health and Human Services

Metabolic Diseases Branch

Lee S. Weinstein, M.D., Chief

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TitleDescriptionImage
Multiple endocrine neoplasia type 1 (MEN1): clinical definitionMultiple endocrine neoplasia type 1 (MEN1) is familial and can cause tumors in 25 different tissues (mostly hormone secreting). Its clinical definition is tumor in two of its three main tissues.Enlarge
Germline mutation is not always found in its classic syndromeThe main gene is known for 5 of 6 1HPT familial syndromes. However, for most, a mutation of that gene still cannot be identified in about 20 to 70 percent of families.Enlarge
Cyclin-dependent kinase inhibitors (CDKI) in the cell Rarely, a mutation in a cyclin-dependent kinase inhibitor (CDKI) gene such as p27KIP1 (CDKN1B) can cause an MEN1-like disorder.Enlarge
Gland types in 1 HPT1HPT is common (about 1/1,000). Eighty-five percent of cases are caused by benign tumor in one parathyroid gland. Fifteen percent are caused by tumor in 2-4 glands. One-third of the 15 percent of multitumor cases (i.e., 5 percent of all) are from a familial syndrome.Enlarge
Primary hyperparathyroidism (1 HPT) affects serum and downstreamPrimary hyperparathyroidism (1HPT) is an overactive parathyroid gland, causing hypercalcemia. The calcium-sensing receptor is one parathyroid cellular molecule that can cause 1HPT. 1HPT causes many downstream complications.Enlarge