U.S. Department of Health and Human Services
Stephen Marx
 

 Contact Info

 
Tel: 301-496-5051
Email: marxs@mail.nih.gov
 

 Select Experience

 
  • M.D.Johns Hopkins University1968
  • B.A.Yale University1964
 

 Related Links

 

    Specialties
    • Endocrinology
    • Genetics/Genomics

    ​Research Images

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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