Hyperparathyroidism - Etiology, Diagnosis and Treatment

Marx, Stephen J.

Abstract

The project goal is the evaluation and treatment of hyperparathyroidism. Patients with persistent or recurrent hyperparathyroidism are referred for evaluation and treatment. Hereditary hyperparathyroidism in particular is under investigation in the hopes of delineating hereditary molecular abnormalities in glandular regulation, as exemplified in the multiple endocrine neoplasia type 1 syndrome and hyperparathyroidism with jaw tumor syndrome. Evaluation ranges from epidemiologic studies of families to in-house clinical studies of patients and to in vitro analyses of excised tissue. Techniques currently being employed and improved include radioimmunoassay of parathyroid hormone, ultrasonography, (reoperative and intra operative), technetium sestamibi scanning, magnetic resonance imaging, CAT scanning, PET scanning selective arteriograpy and selective venous sampling for parathyroid hormone, parathyroid gland cryopreservation and autotransplantation, and transcatheter parathyroid gland infarction. In vitro evaluation of parathyroid and other endocrine tissue involves tissue culture, chemistry and determination of lineage with DNA and RNA probes, utility of MEN1 testing and genetic conseling is studied in selected cases.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Type: Intramural Research (Z01)
• Project #: 1Z01DK043006-24
• Application #: 6432124
• Study Section: (MDB)
• Support Year: 24
• Fiscal Year: 2000

Institution

• Name: U.S. National Inst Diabetes/Digst/Kidney
• Country: United States

Publications

Eastell, R; Arnold, A; Brandi, M L et al. (2009) Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop. J Clin Endocrinol Metab 94:340-50

Ozawa, Atsushi; Agarwal, Sunita K; Mateo, Carmen M et al. (2007) The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. J Clin Endocrinol Metab 92:1948-51

Marx, Stephen J; Simonds, William F (2006) Editorial: Imaging to detect early endocrine cancers. J Clin Endocrinol Metab 91:2861-3

Marx, Stephen J (2005) Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer 5:367-75

Marx, Stephen J; Simonds, William F (2005) Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr Rev 26:615-61

Agarwal, S K; Kennedy, P A; Scacheri, P C et al. (2005) Menin molecular interactions: insights into normal functions and tumorigenesis. Horm Metab Res 37:369-74

Hao, Wei; Skarulis, Monica C; Simonds, William F et al. (2004) Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma. J Clin Endocrinol Metab 89:3776-84

Simonds, William F; Robbins, Christiane M; Agarwal, Sunita K et al. (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 89:96-102

Scacheri, Peter C; Crabtree, Judy S; Kennedy, Alyssa L et al. (2004) Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. Mamm Genome 15:872-7

Crabtree, Judy S; Scacheri, Peter C; Ward, Jerrold M et al. (2003) Of mice and MEN1: Insulinomas in a conditional mouse knockout. Mol Cell Biol 23:6075-85