U.S. Department of Health and Human Services

Metabolic Diseases Branch

Lee S. Weinstein, M.D., Chief

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TitleDescriptionImage
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.Primary hyperparathyroidism (1 HPT) affects serum and downstreamEnlarge
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.Gland types in 1 HPTEnlarge
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.Germline mutation is not always found in its classic syndromeEnlarge
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.Cyclin-dependent kinase inhibitors (CDKI) in the cell Enlarge
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.Multiple endocrine neoplasia type 1 (MEN1): clinical definitionEnlarge