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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Parathyroid adenoma causes

Introduction

Overview

Overview

The cause of most parathyroid adenomas is unknown. However, about 10% are said to be hereditary. It can be the result of multiple genetic mutations in genes such as the calcium-sensing receptor gene, HRPT2 gene (CDC73 gene), Cyclin D1 gene (CCND1)/PRAD1 gene, MEN1 gene, and RET gene.

Causes

Causes

Parathyroid adenoma is idiopathic in approximately 90% of the individuals. However, approximately 10% of parathyroid adenoma are caused by mutation in genes.[1]

Genetic Causes

  • Parathyroid adenoma can be caused by a mutation of the following genes.
References

References

  1. ↑ Duan K, Gomez Hernandez K, Mete O (October 2015). “Clinicopathological correlates of hyperparathyroidism”. J. Clin. Pathol. 68 (10): 771–87. doi:10.1136/jclinpath-2015-203186. PMID 26163537.
  2. ↑ Hosokawa Y, Pollak MR, Brown EM, Arnold A (1995). “Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors”. J. Clin. Endocrinol. Metab. 80 (11): 3107–10. doi:10.1210/jcem.80.11.7593409. PMID 7593409.
  3. ↑ Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J (2000). “Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor”. J. Clin. Endocrinol. Metab. 85 (5): 2042–7. doi:10.1210/jcem.85.5.6477. PMID 10843194.
  4. ↑ Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH, Shoback D; et al. (2003). “Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma”. N Engl J Med. 349 (18): 1722–9. doi:10.1056/NEJMoa031237. PMID 14585940.
  5. ↑ Westin G, Björklund P, Akerström G (2009). “Molecular genetics of parathyroid disease”. World J Surg. 33 (11): 2224–33. doi:10.1007/s00268-009-0022-6. PMID 19373510.
  6. ↑ Hsi ED, Zukerberg LR, Yang WI, Arnold A (1996). “Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study”. J Clin Endocrinol Metab. 81 (5): 1736–9. doi:10.1210/jcem.81.5.8626826. PMID 8626826.
  7. ↑ Westin G, Björklund P, Akerström G (2009). “Molecular genetics of parathyroid disease”. World J Surg. 33 (11): 2224–33. doi:10.1007/s00268-009-0022-6. PMID 19373510.
  8. ↑ Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC; et al. (1997). “Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states”. Hum Mol Genet. 6 (7): 1169–75. PMID 9215689.
  9. ↑ Marquard, Jessica; Eng, Charis (September 27, 1999). “Multiple Endocrine Neoplasia Type 2”. GeneReviews® [Internet].
  10. ↑ Bilezikian JP (January 15, 2017). De Groot LJ, Chrousos G, Dungan K, et al., eds. Primary Hyperparathyroidism. Endotext [Internet]: South Dartmouth (MA): MDText.com, Inc.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Preeti Singh, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]