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Xu, R. Primary Macronodular Adrenal Hyperplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5455 (accessed on 21 September 2026).
Xu R. Primary Macronodular Adrenal Hyperplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5455. Accessed September 21, 2026.
Xu, Rita. "Primary Macronodular Adrenal Hyperplasia" Encyclopedia, https://encyclopedia.pub/entry/5455 (accessed September 21, 2026).
Xu, R. (2020, December 24). Primary Macronodular Adrenal Hyperplasia. In Encyclopedia. https://encyclopedia.pub/entry/5455
Xu, Rita. "Primary Macronodular Adrenal Hyperplasia." Encyclopedia. Web. 24 December, 2020.
Primary Macronodular Adrenal Hyperplasia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia

Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.

genetic conditions

References

  1. Alencar GA, Lerario AM, Nishi MY, Mariani BM, Almeida MQ, Tremblay J, Hamet P,Bourdeau I, Zerbini MC, Pereira MA, Gomes GC, Rocha Mde S, Chambo JL, Lacroix A, Mendonca BB, Fragoso MC. ARMC5 mutations are a frequent cause of primarymacronodular adrenal Hyperplasia. J Clin Endocrinol Metab. 2014Aug;99(8):E1501-9. doi: 10.1210/jc.2013-4237.
  2. Assié G, Libé R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O,Lefèvre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, René-Corail F,Letourneur F, Trabulsi B, Poussier A, Chabbert-Buffet N, Borson-Chazot F,Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J. ARMC5 mutations inmacronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013 Nov 28;369(22):2105-14. doi: 10.1056/NEJMoa1304603.
  3. De Venanzi A, Alencar GA, Bourdeau I, Fragoso MC, Lacroix A. Primary bilateralmacronodular adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes. 2014Jun;21(3):177-84. doi: 10.1097/MED.0000000000000061. Review.
  4. Elbelt U, Trovato A, Kloth M, Gentz E, Finke R, Spranger J, Galas D, Weber S, Wolf C, König K, Arlt W, Büttner R, May P, Allolio B, Schneider JG. Molecular andclinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germlineand somatic mutations are associated with both primary macronodular adrenalhyperplasia and meningioma. J Clin Endocrinol Metab. 2015 Jan;100(1):E119-28.doi: 10.1210/jc.2014-2648.
  5. Faucz FR, Zilbermint M, Lodish MB, Szarek E, Trivellin G, Sinaii N, Berthon A,Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Bertherat J, Stratakis CA.Macronodular adrenal hyperplasia due to mutations in an armadillo repeatcontaining 5 (ARMC5) gene: a clinical and genetic investigation. J ClinEndocrinol Metab. 2014 Jun;99(6):E1113-9. doi: 10.1210/jc.2013-4280.
  6. Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, LuconAM, Mendonca BB. Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1gene. J Clin Endocrinol Metab. 2003 May;88(5):2147-51.
  7. Gagliardi L, Schreiber AW, Hahn CN, Feng J, Cranston T, Boon H, Hotu C,Oftedal BE, Cutfield R, Adelson DL, Braund WJ, Gordon RD, Rees DA, Grossman AB,Torpy DJ, Scott HS. ARMC5 mutations are common in familial bilateral macronodularadrenal hyperplasia. J Clin Endocrinol Metab. 2014 Sep;99(9):E1784-92. doi:10.1210/jc.2014-1265.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
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Update Date: 24 Dec 2020
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