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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

Evaluation of the genetic basis of primary hypoadrenocorticism in Standard Poodles using SNP array genotyping and whole-genome sequencing.
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
Diagnosis and treatment of Addison's disease.
SIMPSON SL
Proc R Soc Med 1953 Jul;46(7):566-71; discussion, 577-8. PMID: 13074224
Addison's disease: its diagnosis and management.
KEMP TA
Med Illus 1951 Feb;5(2):59-62. PMID: 14805859

Recent clinical studies

Etiology

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
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
New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
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
Against the Odds.
Bucholz EM
JAMA 2018 Dec 11;320(22):2313-2314. doi: 10.1001/jama.2018.17821. PMID: 30535222
Hypertriglyceridaemia unresponsive to multiple treatments.
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
Electrochemical sensing of cortisol: a recent update.
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

Adrenal hypoplasia congenita in identical twins.
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
Disorders of Sexual Development in Adult Women.
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
Electrochemical sensing of cortisol: a recent update.
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
Pseudo-hypertriglyceridaemia or hyperglycerolemia?
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
Persistent hypoglycemia.
Levasseur KA, Tigchelaar H, Kannikeswaran N
Pediatr Emerg Care 2013 Jul;29(7):838-41. doi: 10.1097/PEC.0b013e3182989c7d. PMID: 23823267

Therapy

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
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
Adrenal hypoplasia congenita in identical twins.
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
Pseudo-hypertriglyceridaemia or hyperglycerolemia?
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
RADIOIMMUNOASSAY OF HUMAN PLASMA ACTH.
YALOW RS, GLICK SM, ROTH J, BERSON SA
J Clin Endocrinol Metab 1964 Nov;24:1219-25. doi: 10.1210/jcem-24-11-1219. PMID: 14230021
Addison's disease.
SMART GA
Postgrad Med J 1953 Apr;29(330):200-7. doi: 10.1136/pgmj.29.330.200. PMID: 13055541Free PMC Article

Prognosis

Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
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
Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.
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
X-linked congenital adrenal hypoplasia: a case presentation.
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
Hypertriglyceridaemia unresponsive to multiple treatments.
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
EIGHTY-SIX CASES OF ADDISON'S DISEASE.
DUNLOP D
Br Med J 1963 Oct 12;2(5362):887-91. doi: 10.1136/bmj.2.5362.887. PMID: 14067675Free PMC Article

Clinical prediction guides

Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
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
New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
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
A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
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
Electrochemical sensing of cortisol: a recent update.
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
Rarer syndromes characterized by hypogonadotropic hypogonadism.
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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