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ACTH-independent macronodular adrenal hyperplasia 2(AIMAH2)

MedGen UID:
863240
Concept ID:
C4014803
Disease or Syndrome
Synonym: PRIMARY MACRONODULAR ADRENAL HYPERPLASIA
 
Gene (location): ARMC5 (16p11.2)
 
Monarch Initiative: MONDO:0014416
OMIM®: 615954

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
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 levels of blood glucose, also called blood sugar.

PMAH typically becomes evident in a person's forties or fifties. It is considered a form of Cushing syndrome, which is characterized by increased levels of cortisol resulting from one of many possible causes. These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems. However, some people with PMAH do not experience these signs and symptoms and are said to have subclinical Cushing syndrome.  https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Increased body weight
MedGen UID:
12145
Concept ID:
C0043094
Finding
Abnormally increased body weight.
Abdominal obesity
MedGen UID:
90229
Concept ID:
C0311277
Finding
Excessive fat around the stomach and abdomen.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Hyperglycemia
MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome
An increased concentration of glucose in the blood.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Macronodular adrenal hyperplasia
MedGen UID:
137971
Concept ID:
C0342495
Finding
Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.
Increased urinary cortisol level
MedGen UID:
868666
Concept ID:
C4023068
Finding
Abnormally increased concentration of cortisol in the urine.
Increased circulating cortisol level
MedGen UID:
871175
Concept ID:
C4025651
Finding
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
Decreased circulating ACTH concentration
MedGen UID:
1841520
Concept ID:
C5826343
Finding
The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.

Professional guidelines

PubMed

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
Sheikh-Ahmad M, Dickstein G, Matter I, Shechner C, Bejar J, Reut M, Sroka G, Laniado M, Saiegh L
Exp Clin Endocrinol Diabetes 2020 Dec;128(12):827-834. Epub 2019 Oct 21 doi: 10.1055/a-0998-7884. PMID: 31634962
Lamas C, Alfaro JJ, Lucas T, Lecumberri B, Barceló B, Estrada J
Eur J Endocrinol 2002 Feb;146(2):237-40. doi: 10.1530/eje.0.1460237. PMID: 11834434

Recent clinical studies

Etiology

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
Acharya R, Dhir M, Bandi R, Yip L, Challinor S
World J Surg 2019 Feb;43(2):527-533. doi: 10.1007/s00268-018-4788-2. PMID: 30232569
Iacobone M, Albiger N, Scaroni C, Mantero F, Fassina A, Viel G, Frego M, Favia G
World J Surg 2008 May;32(5):882-9. doi: 10.1007/s00268-007-9408-5. PMID: 18214589
Rockall AG, Babar SA, Sohaib SA, Isidori AM, Diaz-Cano S, Monson JP, Grossman AB, Reznek RH
Radiographics 2004 Mar-Apr;24(2):435-52. doi: 10.1148/rg.242035092. PMID: 15026592
Lamas C, Alfaro JJ, Lucas T, Lecumberri B, Barceló B, Estrada J
Eur J Endocrinol 2002 Feb;146(2):237-40. doi: 10.1530/eje.0.1460237. PMID: 11834434

Diagnosis

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
De Venanzi A, Alencar GA, Bourdeau I, Fragoso MC, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2014 Jun;21(3):177-84. doi: 10.1097/MED.0000000000000061. PMID: 24739311
de Groot JW, Links TP, Themmen AP, Looijenga LH, de Krijger RR, van Koetsveld PM, Hofland J, van den Berg G, Hofland LJ, Feelders RA
Eur J Endocrinol 2010 Aug;163(2):293-9. Epub 2010 May 11 doi: 10.1530/EJE-10-0058. PMID: 20460422
Verma A, Mohan S, Gupta A
Abdom Imaging 2008 Mar-Apr;33(2):225-9. doi: 10.1007/s00261-007-9236-y. PMID: 17502981
Rockall AG, Babar SA, Sohaib SA, Isidori AM, Diaz-Cano S, Monson JP, Grossman AB, Reznek RH
Radiographics 2004 Mar-Apr;24(2):435-52. doi: 10.1148/rg.242035092. PMID: 15026592

Therapy

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
J Clin Endocrinol Metab 2014 Aug;99(8):E1501-9. Epub 2014 Apr 7 doi: 10.1210/jc.2013-4237. PMID: 24708098
Rauschecker M, Stratakis CA
Minerva Endocrinol 2012 Jun;37(2):133-9. PMID: 22691887Free PMC Article
Assie G, Louiset E, Sturm N, René-Corail F, Groussin L, Bertherat J, Thomas M, Lefebvre H, Feige JJ, Clauser E, Chabre O, Cherradi N
J Clin Endocrinol Metab 2010 Oct;95(10):E253-62. Epub 2010 Jul 21 doi: 10.1210/jc.2009-2281. PMID: 20660048
Oki K, Yamane K, Nakanishi S, Nakashima R, Jitsuiki K, Kohno N
Endocrine 2009 Dec;36(3):372-6. Epub 2009 Oct 8 doi: 10.1007/s12020-009-9246-3. PMID: 19813002
Verma A, Mohan S, Gupta A
Abdom Imaging 2008 Mar-Apr;33(2):225-9. doi: 10.1007/s00261-007-9236-y. PMID: 17502981

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
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
J Clin Endocrinol Metab 2014 Aug;99(8):E1501-9. Epub 2014 Apr 7 doi: 10.1210/jc.2013-4237. PMID: 24708098
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
N Engl J Med 2013 Nov 28;369(22):2105-14. doi: 10.1056/NEJMoa1304603. PMID: 24283224Free PMC Article
Iacobone M, Albiger N, Scaroni C, Mantero F, Fassina A, Viel G, Frego M, Favia G
World J Surg 2008 May;32(5):882-9. doi: 10.1007/s00268-007-9408-5. PMID: 18214589
Lamas C, Alfaro JJ, Lucas T, Lecumberri B, Barceló B, Estrada J
Eur J Endocrinol 2002 Feb;146(2):237-40. doi: 10.1530/eje.0.1460237. PMID: 11834434

Clinical prediction guides

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
Gosavi V, Lila A, Memon SS, Sarathi V, Thakkar K, Dalvi A, Malhotra G, Prakash G, Patil V, Shah NS, Bandgar T
Horm Metab Res 2022 Feb;54(2):57-66. Epub 2022 Feb 7 doi: 10.1055/a-1735-3232. PMID: 35130566
Chen S, Li R, Zhang X, Lu L, Li J, Pan H, Zhu H
J Clin Endocrinol Metab 2018 Mar 1;103(3):803-808. doi: 10.1210/jc.2017-01977. PMID: 29161416
Louiset E, Duparc C, Young J, Renouf S, Tetsi Nomigni M, Boutelet I, Libé R, Bram Z, Groussin L, Caron P, Tabarin A, Grunenberger F, Christin-Maitre S, Bertagna X, Kuhn JM, Anouar Y, Bertherat J, Lefebvre H
N Engl J Med 2013 Nov 28;369(22):2115-25. doi: 10.1056/NEJMoa1215245. PMID: 24283225
Yoshida M, Hiroi M, Imai T, Kikumori T, Himeno T, Nakamura Y, Sasano H, Yamada M, Murakami Y, Nakamura S, Oiso Y
Endocr J 2011;58(4):269-77. Epub 2011 Mar 10 doi: 10.1507/endocrj.k10e-218. PMID: 21415556

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