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Macronodular adrenal hyperplasia

MedGen UID:
137971
Concept ID:
C0342495
Disease or Syndrome; Finding; Finding
Synonym: Macronodular Adrenal Hyperplasia
SNOMED CT: Macronodular adrenal hyperplasia (237778003)
 
HPO: HP:0008231

Definition

Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMacronodular adrenal hyperplasia

Conditions with this feature

ACTH-independent macronodular adrenal hyperplasia 1
MedGen UID:
347456
Concept ID:
C1857451
Disease or Syndrome
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth or sixth decade of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD; see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830). AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia AIMAH2 (615954) is caused by germline mutation on 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele.
ACTH-independent macronodular adrenal hyperplasia 2
MedGen UID:
863240
Concept ID:
C4014803
Disease or Syndrome
ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).

Professional guidelines

PubMed

Vassiliadi DA, Tsagarakis S
Endocr Relat Cancer 2019 Oct 1;26(10):R567-R581. doi: 10.1530/ERC-19-0240. PMID: 32053747
Bourdeau I, El Ghorayeb N, Gagnon N, Lacroix A
Eur J Endocrinol 2018 Aug;179(2):R57-R67. Epub 2018 May 10 doi: 10.1530/EJE-18-0296. PMID: 29748231
Sonino N, Boscaro M, Fallo F
Treat Endocrinol 2005;4(2):87-94. doi: 10.2165/00024677-200504020-00003. PMID: 15783246

Recent clinical studies

Etiology

Vetrivel S, Tamburello M, Oßwald A, Zhang R, Khan A, Jung S, Baker JE, Rainey WE, Nowak E, Altieri B, Detomas M, Watts D, Williams TA, Wielockx B, Beuschlein F, Reincke M, Sbiera S, Riester A
Front Endocrinol (Lausanne) 2023;14:1265794. Epub 2023 Nov 30 doi: 10.3389/fendo.2023.1265794. PMID: 38098864Free PMC Article
Hara K, Murakami M, Niitsu Y, Takeuchi A, Horino M, Shiba K, Tsujimoto K, Komiya C, Ikeda K, Tsuiki M, Tanabe A, Tanaka T, Yokoyama M, Fujii Y, Naruse M, Yamada T
Front Endocrinol (Lausanne) 2022;13:1073328. Epub 2022 Dec 13 doi: 10.3389/fendo.2022.1073328. PMID: 36583003Free PMC Article
Gao J, Yu Z, Sun F, Xu B, Zhang C, Wang H, Lu J, Lei T
Horm Metab Res 2022 Jun;54(6):354-360. Epub 2022 Jun 13 doi: 10.1055/a-1850-2169. PMID: 35697044
Vaczlavik A, Bouys L, Violon F, Giannone G, Jouinot A, Armignacco R, Cavalcante IP, Berthon A, Letouzé E, Vaduva P, Barat M, Bonnet F, Perlemoine K, Ribes C, Sibony M, North MO, Espiard S, Emy P, Haissaguerre M, Tauveron I, Guignat L, Groussin L, Dousset B, Reincke M, Fragoso MC, Stratakis CA, Pasmant E, Libé R, Assié G, Ragazzon B, Bertherat J
Genet Med 2022 Feb;24(2):374-383. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.09.018. PMID: 34906447
Samsel R, Papierska L, Nowak K, Kolasińska-Ćwikla A, Łebek-Szatańska A, Leszczyńska D, Jakubowicz K, Komorowska E, Rabijewski M, Roszkowska-Purska K, Cichocki A
Endokrynol Pol 2021;72(5):492-497. Epub 2021 Jul 22 doi: 10.5603/EP.a2021.0063. PMID: 34292568

Diagnosis

Guarnotta V, Emanuele F, Salzillo R, Giordano C
Front Endocrinol (Lausanne) 2023;14:1329082. Epub 2023 Dec 12 doi: 10.3389/fendo.2023.1329082. PMID: 38192416Free PMC Article
Hara K, Murakami M, Niitsu Y, Takeuchi A, Horino M, Shiba K, Tsujimoto K, Komiya C, Ikeda K, Tsuiki M, Tanabe A, Tanaka T, Yokoyama M, Fujii Y, Naruse M, Yamada T
Front Endocrinol (Lausanne) 2022;13:1073328. Epub 2022 Dec 13 doi: 10.3389/fendo.2022.1073328. PMID: 36583003Free PMC Article
Wagner-Bartak NA, Baiomy A, Habra MA, Mukhi SV, Morani AC, Korivi BR, Waguespack SG, Elsayes KM
AJR Am J Roentgenol 2017 Jul;209(1):19-32. doi: 10.2214/AJR.16.17290. PMID: 28639924
Gupta P, Bhalla A, Sharma R
J Med Imaging Radiat Oncol 2012 Dec;56(6):636-45. Epub 2012 Sep 27 doi: 10.1111/j.1754-9485.2012.02435.x. PMID: 23210583
Bourdeau I, Lampron A, Costa MH, Tadjine M, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2007 Jun;14(3):219-25. doi: 10.1097/MED.0b013e32814db842. PMID: 17940443

Therapy

Araujo-Castro M, Reincke M
Endocrinol Diabetes Nutr (Engl Ed) 2023 Apr;70(4):229-239. doi: 10.1016/j.endien.2023.04.005. PMID: 37116968
Vassiliadi DA, Tsagarakis S
Endocr Relat Cancer 2019 Oct 1;26(10):R567-R581. doi: 10.1530/ERC-19-0240. PMID: 32053747
Mazzuco TL, Chaffanjon P, Martinie M, Sturm N, Chabre O
Endocr J 2009;56(7):867-77. Epub 2009 Jun 30 doi: 10.1507/endocrj.k08e-370. PMID: 19564707
Ohmori N, Nomura K, Ohmori K, Takano K
Endocr J 2007 Jun;54(3):391-7. Epub 2007 Apr 20 doi: 10.1507/endocrj.k05-154. PMID: 17446657
Sonino N, Boscaro M, Fallo F
Treat Endocrinol 2005;4(2):87-94. doi: 10.2165/00024677-200504020-00003. PMID: 15783246

Prognosis

An X, Chen T, Mo D, Shen S, Zhang D, Zhang T, Tian H, Li Y, Li J, Li L, Wu N, Zhu Y, Ren Y
Endocrine 2023 Sep;81(3):562-572. Epub 2023 Jun 24 doi: 10.1007/s12020-023-03395-7. PMID: 37354283
Gao J, Yu Z, Sun F, Xu B, Zhang C, Wang H, Lu J, Lei T
Horm Metab Res 2022 Jun;54(6):354-360. Epub 2022 Jun 13 doi: 10.1055/a-1850-2169. PMID: 35697044
Berthon A, Bertherat J
Horm Metab Res 2020 Aug;52(8):598-606. Epub 2020 Feb 25 doi: 10.1055/a-1061-7349. PMID: 32097969
Regazzo D, Barbot M, Scaroni C, Albiger N, Occhi G
Rev Endocr Metab Disord 2020 Mar;21(1):165-183. doi: 10.1007/s11154-019-09536-6. PMID: 31933128
Bourdeau I, Lampron A, Costa MH, Tadjine M, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2007 Jun;14(3):219-25. doi: 10.1097/MED.0b013e32814db842. PMID: 17940443

Clinical prediction guides

Sol B, Carprieaux M, De Leu N
BMJ Case Rep 2023 Jul 6;16(7) doi: 10.1136/bcr-2022-254099. PMID: 37419498Free PMC Article
Reis BO, Leal CTS, Ezequiel DGA, Dos Santos Ribeiro Simões Juliano AC, de Macedo Veloso FL, da Silva LM, Ferreira LV, Ferreira M, De Oliveira Souza GZ
J Med Case Rep 2023 Jun 17;17(1):251. doi: 10.1186/s13256-023-03968-0. PMID: 37328870Free PMC Article
Gao J, Yu Z, Sun F, Xu B, Zhang C, Wang H, Lu J, Lei T
Horm Metab Res 2022 Jun;54(6):354-360. Epub 2022 Jun 13 doi: 10.1055/a-1850-2169. PMID: 35697044
Vaczlavik A, Bouys L, Violon F, Giannone G, Jouinot A, Armignacco R, Cavalcante IP, Berthon A, Letouzé E, Vaduva P, Barat M, Bonnet F, Perlemoine K, Ribes C, Sibony M, North MO, Espiard S, Emy P, Haissaguerre M, Tauveron I, Guignat L, Groussin L, Dousset B, Reincke M, Fragoso MC, Stratakis CA, Pasmant E, Libé R, Assié G, Ragazzon B, Bertherat J
Genet Med 2022 Feb;24(2):374-383. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.09.018. PMID: 34906447
Berthon A, Bertherat J
Horm Metab Res 2020 Aug;52(8):598-606. Epub 2020 Feb 25 doi: 10.1055/a-1061-7349. PMID: 32097969

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