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Primary adrenocortical insufficiency

MedGen UID:
1324
Concept ID:
C0001403
Disease or Syndrome
Synonyms: Addison disease; Addison's disease; Chronic primary adrenal insufficiency; Hypoadrenocorticism familial
SNOMED CT: Addison disease (363732003); Addison's disease (363732003)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
Monarch Initiative: MONDO:0015129
OMIM®: 240200
Orphanet: ORPHA101959

Definition

Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. [from ORDO]

Clinical features

From HPO
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Abnormality of skin pigmentation
MedGen UID:
224697
Concept ID:
C1260926
Finding
An abnormality of the pigmentation of the skin.
Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
Adrenal hypoplasia
MedGen UID:
337539
Concept ID:
C1846223
Pathologic Function
Developmental hypoplasia of the adrenal glands.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary adrenocortical insufficiency

Professional guidelines

PubMed

Molnár Á, Kövesdi A, Szücs N, Tóth M, Igaz P, Rácz K, Patócs A
Clin Endocrinol (Oxf) 2016 Aug;85(2):180-8. Epub 2016 Feb 18 doi: 10.1111/cen.13022. PMID: 26800219
Jadoul M, Ferrant A, De Plaen JF, Crabbé J
J Endocrinol Invest 1991 Feb;14(2):87-91. doi: 10.1007/BF03350272. PMID: 2061574

Recent clinical studies

Etiology

Bozkur E, Turgut S, Pamuk N, Piskinpasa H, Metin D, Dural AC, Sahbaz NA, Gunaldi O, Cakir İ, Mert M, Dogansen SC
Arch Endocrinol Metab 2023 Jan 18;67(1):45-54. Epub 2022 Oct 11 doi: 10.20945/2359-3997000000525. PMID: 36219200Free PMC Article
Saari V, Holopainen E, Mäkitie O, Laakso S
Eur J Endocrinol 2020 Nov;183(5):513-520. doi: 10.1530/EJE-20-0516. PMID: 33107435
Bruserud Ø, Oftedal BE, Landegren N, Erichsen MM, Bratland E, Lima K, Jørgensen AP, Myhre AG, Svartberg J, Fougner KJ, Bakke Å, Nedrebø BG, Mella B, Breivik L, Viken MK, Knappskog PM, Marthinussen MC, Løvås K, Kämpe O, Wolff AB, Husebye ES
J Clin Endocrinol Metab 2016 Aug;101(8):2975-83. Epub 2016 Jun 2 doi: 10.1210/jc.2016-1821. PMID: 27253668Free PMC Article
Molnár Á, Kövesdi A, Szücs N, Tóth M, Igaz P, Rácz K, Patócs A
Clin Endocrinol (Oxf) 2016 Aug;85(2):180-8. Epub 2016 Feb 18 doi: 10.1111/cen.13022. PMID: 26800219
Bensing S, Brandt L, Tabaroj F, Sjöberg O, Nilsson B, Ekbom A, Blomqvist P, Kämpe O
Clin Endocrinol (Oxf) 2008 Nov;69(5):697-704. Epub 2008 Aug 22 doi: 10.1111/j.1365-2265.2008.03340.x. PMID: 18727712

Diagnosis

Saari V, Holopainen E, Mäkitie O, Laakso S
Eur J Endocrinol 2020 Nov;183(5):513-520. doi: 10.1530/EJE-20-0516. PMID: 33107435
Takahashi K, Kagami S, Kawashima H, Kashiwakuma D, Suzuki Y, Iwamoto I
Intern Med 2016;55(9):1223-8. Epub 2016 May 1 doi: 10.2169/internalmedicine.55.5392. PMID: 27150885
Betterle C, Morlin L
Endocr Dev 2011;20:161-172. Epub 2010 Dec 16 doi: 10.1159/000321239. PMID: 21164269
Cappa M, Bizzarri C, Vollono C, Petroni A, Banni S
Endocr Dev 2011;20:149-160. Epub 2010 Dec 16 doi: 10.1159/000321236. PMID: 21164268
Burke MP, Opeskin K
Am J Forensic Med Pathol 1999 Mar;20(1):60-5. doi: 10.1097/00000433-199903000-00015. PMID: 10208340

Therapy

Molnár Á, Kövesdi A, Szücs N, Tóth M, Igaz P, Rácz K, Patócs A
Clin Endocrinol (Oxf) 2016 Aug;85(2):180-8. Epub 2016 Feb 18 doi: 10.1111/cen.13022. PMID: 26800219
Betterle C, Morlin L
Endocr Dev 2011;20:161-172. Epub 2010 Dec 16 doi: 10.1159/000321239. PMID: 21164269
Assies J, Haverkort EB, Lieverse R, Vreken P
Clin Endocrinol (Oxf) 2003 Oct;59(4):459-66. doi: 10.1046/j.1365-2265.2003.01868.x. PMID: 14510908
Jadoul M, Ferrant A, De Plaen JF, Crabbé J
J Endocrinol Invest 1991 Feb;14(2):87-91. doi: 10.1007/BF03350272. PMID: 2061574
Stahnke N, Ilicki A, Willig RP
Acta Paediatr Scand Suppl 1979;277:32-40. doi: 10.1111/j.1651-2227.1979.tb06189.x. PMID: 120672

Prognosis

Saari V, Holopainen E, Mäkitie O, Laakso S
Eur J Endocrinol 2020 Nov;183(5):513-520. doi: 10.1530/EJE-20-0516. PMID: 33107435
Vargas MCC, Moura FS, Elias CP, Carvalho SR, Rassi N, Kunii IS, Dias-da-Silva MR, Costa-Barbosa FA
BMC Endocr Disord 2020 Feb 6;20(1):21. doi: 10.1186/s12902-020-0500-2. PMID: 32028936Free PMC Article
Bruserud Ø, Oftedal BE, Landegren N, Erichsen MM, Bratland E, Lima K, Jørgensen AP, Myhre AG, Svartberg J, Fougner KJ, Bakke Å, Nedrebø BG, Mella B, Breivik L, Viken MK, Knappskog PM, Marthinussen MC, Løvås K, Kämpe O, Wolff AB, Husebye ES
J Clin Endocrinol Metab 2016 Aug;101(8):2975-83. Epub 2016 Jun 2 doi: 10.1210/jc.2016-1821. PMID: 27253668Free PMC Article
Tsai SL, Green J, Metherell LA, Curtis F, Fernandez B, Healey A, Curtis J
Horm Res Paediatr 2016;85(1):35-42. Epub 2015 Dec 10 doi: 10.1159/000441843. PMID: 26650942
Bensing S, Brandt L, Tabaroj F, Sjöberg O, Nilsson B, Ekbom A, Blomqvist P, Kämpe O
Clin Endocrinol (Oxf) 2008 Nov;69(5):697-704. Epub 2008 Aug 22 doi: 10.1111/j.1365-2265.2008.03340.x. PMID: 18727712

Clinical prediction guides

Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB, Li M
Mol Med Rep 2020 Aug;22(2):1285-1294. Epub 2020 Jun 12 doi: 10.3892/mmr.2020.11227. PMID: 32627016Free PMC Article
Bensing S, Brandt L, Tabaroj F, Sjöberg O, Nilsson B, Ekbom A, Blomqvist P, Kämpe O
Clin Endocrinol (Oxf) 2008 Nov;69(5):697-704. Epub 2008 Aug 22 doi: 10.1111/j.1365-2265.2008.03340.x. PMID: 18727712
Agarwal G, Bhatia E, Pandey R, Jain SK
Natl Med J India 2001 Jan-Feb;14(1):23-5. PMID: 11242694
Stahnke N, Ilicki A, Willig RP
Acta Paediatr Scand Suppl 1979;277:32-40. doi: 10.1111/j.1651-2227.1979.tb06189.x. PMID: 120672
Tanaka K, Nicholson WE, Orth DN
J Clin Endocrinol Metab 1978 Jun;46(6):883-90. doi: 10.1210/jcem-46-6-883. PMID: 233701

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