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Cushing syndrome due to macronodular adrenal hyperplasia

MedGen UID:
923388
Concept ID:
C2062388
Disease or Syndrome
Synonyms: ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; AIMAH; corticotropin-independent macronodular adrenal hyperplasia; Hypercortisolism due to macronodular adrenal hyperplasia; massive macronodular adrenocortical disease; MMAD; Primary bilateral macronodular adrenal hyperplasia; primary bilateral macronodular adrenal hyperplasia; primary macronodular adrenal hyperplasia
SNOMED CT: Hypercortisolism due to macronodular adrenal hyperplasia (720459002); Cushing syndrome due to macronodular adrenal hyperplasia (720459002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: ARMC5, GNAS
 
Monarch Initiative: MONDO:0009049
Orphanet: ORPHA189427

Definition

Adrenocorticotropic hormone independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome with characteristics of nodular enlargement of both adrenal glands that produce excess cortisol. The disease presents a bimodal age distribution with a rare subset presenting in the first years of life, particularly associated to McCune-Albright syndrome. Most patients present in their fifth or sixth decade. The adrenal glands can be massively enlarged bilaterally with the presence of numerous macronodules; however diffuse adrenal enlargement without nodules has been described. AIMAH is most often reported as sporadic but there are increasing reports of familial cases with autosomal dominant transmission. [from SNOMEDCT_US]

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
Mazzuco TL, Bourdeau I, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2009 Jun;16(3):203-10. doi: 10.1097/MED.0b013e32832b7043. PMID: 19390321

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
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
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
Mete O, Erickson LA, Juhlin CC, de Krijger RR, Sasano H, Volante M, Papotti MG
Endocr Pathol 2022 Mar;33(1):155-196. Epub 2022 Mar 14 doi: 10.1007/s12022-022-09710-8. PMID: 35288842Free PMC Article
Duan K, Gomez Hernandez K, Mete O
J Clin Pathol 2015 Mar;68(3):175-86. Epub 2014 Nov 25 doi: 10.1136/jclinpath-2014-202612. PMID: 25425660

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
Cavalcante IP, Berthon A, Fragoso MC, Reincke M, Stratakis CA, Ragazzon B, Bertherat J
Nat Rev Endocrinol 2022 Nov;18(11):699-711. Epub 2022 Aug 3 doi: 10.1038/s41574-022-00718-y. PMID: 35922573
Mete O, Erickson LA, Juhlin CC, de Krijger RR, Sasano H, Volante M, Papotti MG
Endocr Pathol 2022 Mar;33(1):155-196. Epub 2022 Mar 14 doi: 10.1007/s12022-022-09710-8. PMID: 35288842Free PMC Article
Bourdeau I, Parisien-La Salle S, Lacroix A
Best Pract Res Clin Endocrinol Metab 2020 May;34(3):101386. Epub 2020 Feb 4 doi: 10.1016/j.beem.2020.101386. PMID: 32115357
Bertagna X, Guignat L, Groussin L, Bertherat J
Best Pract Res Clin Endocrinol Metab 2009 Oct;23(5):607-23. doi: 10.1016/j.beem.2009.06.001. PMID: 19945026

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
Tan XG, Zhu J, Cui L
BMC Endocr Disord 2022 Jan 5;22(1):11. doi: 10.1186/s12902-021-00910-7. PMID: 34986816Free PMC Article
Vassiliadi DA, Tsagarakis S
Endocr Relat Cancer 2019 Oct 1;26(10):R567-R581. doi: 10.1530/ERC-19-0240. PMID: 32053747
Sonino N, Boscaro M, Fallo F
Treat Endocrinol 2005;4(2):87-94. doi: 10.2165/00024677-200504020-00003. PMID: 15783246
Beauregard C, Dickstein G, Lacroix A
Treat Endocrinol 2002;1(2):79-94. doi: 10.2165/00024677-200201020-00002. PMID: 15765624

Prognosis

Vetrivel S, Zhang R, Engel M, Oßwald A, Watts D, Chen A, Wielockx B, Sbiera S, Reincke M, Riester A
Int J Mol Sci 2022 Jul 12;23(14) doi: 10.3390/ijms23147676. PMID: 35887024Free PMC Article
Mete O, Erickson LA, Juhlin CC, de Krijger RR, Sasano H, Volante M, Papotti MG
Endocr Pathol 2022 Mar;33(1):155-196. Epub 2022 Mar 14 doi: 10.1007/s12022-022-09710-8. PMID: 35288842Free PMC Article
Assié G
Ann Endocrinol (Paris) 2018 Jun;79(3):119-122. Epub 2018 May 4 doi: 10.1016/j.ando.2018.03.011. PMID: 29735160
Duan K, Gomez Hernandez K, Mete O
J Clin Pathol 2015 Mar;68(3):175-86. Epub 2014 Nov 25 doi: 10.1136/jclinpath-2014-202612. PMID: 25425660
Bertagna X, Guignat L, Groussin L, Bertherat J
Best Pract Res Clin Endocrinol Metab 2009 Oct;23(5):607-23. doi: 10.1016/j.beem.2009.06.001. PMID: 19945026

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
Vetrivel S, Zhang R, Engel M, Oßwald A, Watts D, Chen A, Wielockx B, Sbiera S, Reincke M, Riester A
Int J Mol Sci 2022 Jul 12;23(14) doi: 10.3390/ijms23147676. PMID: 35887024Free PMC Article
Mete O, Erickson LA, Juhlin CC, de Krijger RR, Sasano H, Volante M, Papotti MG
Endocr Pathol 2022 Mar;33(1):155-196. Epub 2022 Mar 14 doi: 10.1007/s12022-022-09710-8. PMID: 35288842Free PMC Article
Lopes RI, Suartz CV, Neto RP, Berjeaut RH, Mendonca B, Almeida MQ, Fragoso MCV, Dénes FT
J Pediatr Surg 2021 Apr;56(4):768-771. Epub 2020 Sep 1 doi: 10.1016/j.jpedsurg.2020.08.020. PMID: 32972741
Duan K, Gomez Hernandez K, Mete O
J Clin Pathol 2015 Mar;68(3):175-86. Epub 2014 Nov 25 doi: 10.1136/jclinpath-2014-202612. PMID: 25425660

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