Primary macronodular adrenal hyperplasia
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Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterised 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.
Descrizione
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterised 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 characterised 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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Not inherited; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
ACTH-independent macronodular adrenal hyperplasia
ACTH-independent macronodular adrenocortical hyperplasia
Adrenal Cushing syndrome due to AIMAH
Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
AIMAH
Corticotropin-independent macronodular adrenal hyperplasia
PMAH
Primary bilateral macronodular adrenal hyperplasia
Related patient information and medicines
Patient information leaflet
sindrome di Cushing
Cushing's syndrome is caused by too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by... Adrenal problems There are various rare disorders of the adrenal glands which can cause high levels of cortisol..
Patient information leaflet
Mestruazioni mancate
Conditions ... The thyroid gland produces hormones which may affect periods. If you are producing either too much hormone ( hyperthyroidism ) or too little ( hypothyroidism ), your periods may be affected. Iperplasia surrenalica congenita. Questo è un rare inherited condition where steroid hormones of the adrenal glands are not produced normally..
Patient information leaflet
Iperplasia surrenalica congenita
Iperplasia surrenalica congenita is an inherited (genetic) condition causing swelling of the adrenal glands. The condition is associated with a decrease in the blood level of a hormone called cortisol and an increase in the level of male sex hormones (androgens) in both sexes. What is congenital adrenal hyperplasia. Congenital adrenal hyperplasia.
Patient information leaflet
Morbo di Addison
Morbo di Addison is a condition in which your ghiandole surrenali are not working as well as they should. In Addison's disease the adrenal glands do not produce as much of the steroid hormones (such as cortisol) as they normally do. These hormones are vi... What is Addison's disease. Addison's disease, also known as primary adrenal insufficiency, is a.
Patient information leaflet
Disturbi della ghiandola pituitaria
This leaflet gives a brief overview of the problema della ghiandola pituitaria and the hormones it makes. The pituitary gland is found at the base of the brain and is 'pea-sized'. The pituitary gland is an overall controller of a number of other glands in the body, overseeing the function of these organs through hormones. Some of the pituitary gland disorders.
Patient information leaflet
Steroidi orali
Medicinali steroidei (sometimes referred to as corticosteroids) are man-made (synthetic) versions of steroid hormones produced by the body. There are several different forms of steroid medicines. Croup. Oral steroids are also used to treat the effects of some cancers or to treat conditions in which a person is not making enough of their own natural.
Ulteriori letture e riferimenti
- Primary macronodular adrenal hyperplasia; MedlinePlus, National Library of Medicine.
- 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 primary macronodular adrenal Hyperplasia. J Clin Endocrinol Metab. 2014 Aug;99(8):E1501-9. doi: 10.1210/jc.2013-4237. Epub 2014 Apr 7.
- Assie G, Libe R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O, Lefevre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, Rene-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 in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013 Nov 28;369(22):2105-14. doi: 10.1056/NEJMoa1304603.
- De Venanzi A, Alencar GA, Bourdeau I, Fragoso MC, Lacroix A. Primary bilateral macronodular adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes. 2014 Jun;21(3):177-84. doi: 10.1097/MED.0000000000000061.
- Elbelt U, Trovato A, Kloth M, Gentz E, Finke R, Spranger J, Galas D, Weber S, Wolf C, Konig K, Arlt W, Buttner R, May P, Allolio B, Schneider JG. Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma. J Clin Endocrinol Metab. 2015 Jan;100(1):E119-28. doi: 10.1210/jc.2014-2648.
- Faucz FR, Zilbermint M, Lodish MB, Szarek E, Trivellin G, Sinaii N, Berthon A, Libe R, Assie G, Espiard S, Drougat L, Ragazzon B, Bertherat J, Stratakis CA. Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. J Clin Endocrinol Metab. 2014 Jun;99(6):E1113-9. doi: 10.1210/jc.2013-4280. Epub 2014 Mar 6.
- Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM, Mendonca BB. Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab. 2003 May;88(5):2147-51. doi: 10.1210/jc.2002-021362.
- 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 macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 2014 Sep;99(9):E1784-92. doi: 10.1210/jc.2014-1265. Epub 2014 Jun 6.
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