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Familial Hypoadrenocorticism

MedGen UID:
357032
Concept ID:
C1868690
Disease or Syndrome
Synonyms: Familial Hypoadrenocorticisms; Hypoadrenocorticism, Familial; Hypoadrenocorticisms, Familial
 
OMIM®: 240200

Definition

Hereditary forms of Addison disease that may exhibit autosomal recessive or X-linked inheritance. They are characterized by severe neurological symptoms, APNEA; and death in infancy. OMIM: 240200 [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial Hypoadrenocorticism

Professional guidelines

PubMed

Friedenberg SG, Lunn KF, Meurs KM
Mamm Genome 2017 Feb;28(1-2):56-65. Epub 2016 Nov 18 doi: 10.1007/s00335-016-9671-6. PMID: 27864587Free PMC Article
SIMPSON SL
Proc R Soc Med 1953 Jul;46(7):566-71; discussion, 577-8. PMID: 13074224
DUNLOP DM
Proc R Soc Med 1953 Jul;46(7):565-6; discussion, 577-8. PMID: 13074223Free PMC Article

Recent clinical studies

Etiology

Zheng W, Duan Y, Xia Y, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Zhang H, Han L, Gong Z, Xiao B, Qiu W
Orphanet J Rare Dis 2023 May 26;18(1):126. doi: 10.1186/s13023-023-02737-y. PMID: 37237297Free PMC Article
Jiang Y, Peng H, Zhao R, Chang Y, Liu J, Fu L, Li L, Ma Y, Li W, Jiang H
Mol Genet Genomic Med 2023 Jun;11(6):e2171. Epub 2023 Apr 28 doi: 10.1002/mgg3.2171. PMID: 37118935Free PMC Article
Zhu F, Zhou M, Deng X, Li Y, Xiong J
Front Endocrinol (Lausanne) 2022;13:897069. Epub 2022 Jun 16 doi: 10.3389/fendo.2022.897069. PMID: 35784540Free PMC Article
Bucholz EM
JAMA 2018 Dec 11;320(22):2313-2314. doi: 10.1001/jama.2018.17821. PMID: 30535222
Singh A, Kaushik A, Kumar R, Nair M, Bhansali S
Appl Biochem Biotechnol 2014 Oct;174(3):1115-26. Epub 2014 Apr 11 doi: 10.1007/s12010-014-0894-2. PMID: 24723204Free PMC Article

Diagnosis

Al Amer AM, Al Rubaya KM, Alzahrani AS
Saudi Med J 2019 Jan;40(1):87-92. doi: 10.15537/smj.2019.1.23337. PMID: 30617386Free PMC Article
Gomez-Lobo V, Amies Oelschlager AM; North American Society for Pediatric and Adolescent Gynecology
Obstet Gynecol 2016 Nov;128(5):1162-1173. doi: 10.1097/AOG.0000000000001672. PMID: 27741188Free PMC Article
Brett EM, Auchus RJ
Endocr Pract 2015 Apr;21(4):395-9. Epub 2015 Feb 9 doi: 10.4158/EP14503.RA. PMID: 25667374
Arrobas-Velilla T, Mondéjar-García R, Gómez-Gerique JA, Cañizares Díaz I, Cruz Mengibar MC, Orive de Diego A, Fabiani-Romero F
Clin Investig Arterioscler 2013 Jul-Aug;25(3):123-6. Epub 2013 Jul 19 doi: 10.1016/j.arteri.2013.05.005. PMID: 23877006
Levasseur KA, Tigchelaar H, Kannikeswaran N
Pediatr Emerg Care 2013 Jul;29(7):838-41. doi: 10.1097/PEC.0b013e3182989c7d. PMID: 23823267

Therapy

Zheng W, Duan Y, Xia Y, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Zhang H, Han L, Gong Z, Xiao B, Qiu W
Orphanet J Rare Dis 2023 May 26;18(1):126. doi: 10.1186/s13023-023-02737-y. PMID: 37237297Free PMC Article
Choudhari PR, Dayton K
Clin Pediatr (Phila) 2019 Nov;58(13):1466-1468. Epub 2019 Sep 11 doi: 10.1177/0009922819875546. PMID: 31510766
Al Amer AM, Al Rubaya KM, Alzahrani AS
Saudi Med J 2019 Jan;40(1):87-92. doi: 10.15537/smj.2019.1.23337. PMID: 30617386Free PMC Article
Arrobas-Velilla T, Mondéjar-García R, Gómez-Gerique JA, Cañizares Díaz I, Cruz Mengibar MC, Orive de Diego A, Fabiani-Romero F
Clin Investig Arterioscler 2013 Jul-Aug;25(3):123-6. Epub 2013 Jul 19 doi: 10.1016/j.arteri.2013.05.005. PMID: 23877006
SMART GA
Postgrad Med J 1953 Apr;29(330):200-7. doi: 10.1136/pgmj.29.330.200. PMID: 13055541Free PMC Article

Prognosis

Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T
J Clin Endocrinol Metab 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627. PMID: 37878959
Tao N, Liu X, Chen Y, Sun M, Xu F, Su Y
BMC Pediatr 2022 Sep 1;22(1):517. doi: 10.1186/s12887-022-03568-9. PMID: 36050749Free PMC Article
Ouyang H, Chen B, Wu N, Li L, Du R, Qian M, Yu W, He Y, Liu X
BMC Endocr Disord 2021 Jun 15;21(1):118. doi: 10.1186/s12902-021-00785-8. PMID: 34130666Free PMC Article
Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L
Curr Med Sci 2020 Feb;40(1):172-177. Epub 2020 Mar 13 doi: 10.1007/s11596-020-2161-9. PMID: 32166680
Backes JM, Dayspring TD, Hoefner DM, Moriarty PM
BMJ Case Rep 2015 Oct 14;2015 doi: 10.1136/bcr-2015-210788. PMID: 26468219Free PMC Article

Clinical prediction guides

Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T
J Clin Endocrinol Metab 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627. PMID: 37878959
Jiang Y, Peng H, Zhao R, Chang Y, Liu J, Fu L, Li L, Ma Y, Li W, Jiang H
Mol Genet Genomic Med 2023 Jun;11(6):e2171. Epub 2023 Apr 28 doi: 10.1002/mgg3.2171. PMID: 37118935Free PMC Article
Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L
Curr Med Sci 2020 Feb;40(1):172-177. Epub 2020 Mar 13 doi: 10.1007/s11596-020-2161-9. PMID: 32166680
Singh A, Kaushik A, Kumar R, Nair M, Bhansali S
Appl Biochem Biotechnol 2014 Oct;174(3):1115-26. Epub 2014 Apr 11 doi: 10.1007/s12010-014-0894-2. PMID: 24723204Free PMC Article
Aminzadeh M, Kim HG, Layman LC, Cheetham TD
Front Horm Res 2010;39:154-167. Epub 2010 Apr 8 doi: 10.1159/000312701. PMID: 20389093

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