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Anti-21-hydroxylase antibody positivity

MedGen UID:
1814239
•Concept ID:
C5676668
•
Finding
Synonym: Anti-P450c21
 
HPO: HP:0034071

Definition

The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnti-21-hydroxylase antibody positivity

Professional guidelines

PubMed

Endocrine autoimmunity in patients with Latent Autoimmune Diabetes in Adults (LADA) — association with HLA genotype.
Szepietowska B, Wawrusiewicz-Kurylonek N, Krętowski A, Górska M, Szelachowska M
Endokrynol Pol 2016;67(2):197-201. doi: 10.5603/EP.a2016.0017. PMID: 26884287

Recent clinical studies

Etiology

Reversible primary adrenal insufficiency related to anti-programmed cell-death 1 protein active immunotherapy: Insight into an unforeseen outcome of a rare immune-related adverse event.
Deligiorgi MV, Trafalis DT
Int Immunopharmacol 2020 Dec;89(Pt B):107050. Epub 2020 Oct 15 doi: 10.1016/j.intimp.2020.107050. PMID: 33069924
A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.
Vakkilainen S, Mäkitie R, Klemetti P, Valta H, Taskinen M, Husebye ES, Mäkitie O
Front Immunol 2018;9:2468. Epub 2018 Oct 25 doi: 10.3389/fimmu.2018.02468. PMID: 30410491Free PMC Article
Endocrine autoimmunity in patients with Latent Autoimmune Diabetes in Adults (LADA) — association with HLA genotype.
Szepietowska B, Wawrusiewicz-Kurylonek N, Krętowski A, Górska M, Szelachowska M
Endokrynol Pol 2016;67(2):197-201. doi: 10.5603/EP.a2016.0017. PMID: 26884287
Cortisol hyporesponsiveness to the low dose ACTH test is a frequent finding in a pediatric population with type 1 diabetes mellitus.
Gaete X, Iñiguez G, Linares J, Avila A, Mericq V
Pediatr Diabetes 2013 Sep;14(6):429-34. Epub 2013 Mar 12 doi: 10.1111/pedi.12021. PMID: 23490274

Diagnosis

Newly diagnosed autoimmune Addison's disease in a patient with COVID-19 with autoimmune disseminated encephalomyelitis.
Beshay L, Wei K, Yang Q
BMJ Case Rep 2022 Dec 5;15(12) doi: 10.1136/bcr-2022-250749. PMID: 36593594Free PMC Article
Reversible primary adrenal insufficiency related to anti-programmed cell-death 1 protein active immunotherapy: Insight into an unforeseen outcome of a rare immune-related adverse event.
Deligiorgi MV, Trafalis DT
Int Immunopharmacol 2020 Dec;89(Pt B):107050. Epub 2020 Oct 15 doi: 10.1016/j.intimp.2020.107050. PMID: 33069924
Latent Adrenal Insufficiency: Concept, Clues to Detection, and Diagnosis.
Yamamoto T
Endocr Pract 2018 Aug;24(8):746-755. Epub 2018 Aug 7 doi: 10.4158/EP-2018-0114. PMID: 30084678
Endocrine autoimmunity in patients with Latent Autoimmune Diabetes in Adults (LADA) — association with HLA genotype.
Szepietowska B, Wawrusiewicz-Kurylonek N, Krętowski A, Górska M, Szelachowska M
Endokrynol Pol 2016;67(2):197-201. doi: 10.5603/EP.a2016.0017. PMID: 26884287
Addison disease presenting with acute neurologic deterioration: a rare presentation yields new lessons from old observations in primary adrenal failure.
Myers KA, Kline GA
Endocr Pract 2010 May-Jun;16(3):433-6. doi: 10.4158/EP09282.CR. PMID: 20061283

Therapy

Newly diagnosed autoimmune Addison's disease in a patient with COVID-19 with autoimmune disseminated encephalomyelitis.
Beshay L, Wei K, Yang Q
BMJ Case Rep 2022 Dec 5;15(12) doi: 10.1136/bcr-2022-250749. PMID: 36593594Free PMC Article
Reversible primary adrenal insufficiency related to anti-programmed cell-death 1 protein active immunotherapy: Insight into an unforeseen outcome of a rare immune-related adverse event.
Deligiorgi MV, Trafalis DT
Int Immunopharmacol 2020 Dec;89(Pt B):107050. Epub 2020 Oct 15 doi: 10.1016/j.intimp.2020.107050. PMID: 33069924
Latent Adrenal Insufficiency: Concept, Clues to Detection, and Diagnosis.
Yamamoto T
Endocr Pract 2018 Aug;24(8):746-755. Epub 2018 Aug 7 doi: 10.4158/EP-2018-0114. PMID: 30084678
Cortisol hyporesponsiveness to the low dose ACTH test is a frequent finding in a pediatric population with type 1 diabetes mellitus.
Gaete X, Iñiguez G, Linares J, Avila A, Mericq V
Pediatr Diabetes 2013 Sep;14(6):429-34. Epub 2013 Mar 12 doi: 10.1111/pedi.12021. PMID: 23490274
Addison disease presenting with acute neurologic deterioration: a rare presentation yields new lessons from old observations in primary adrenal failure.
Myers KA, Kline GA
Endocr Pract 2010 May-Jun;16(3):433-6. doi: 10.4158/EP09282.CR. PMID: 20061283

Prognosis

Cortisol hyporesponsiveness to the low dose ACTH test is a frequent finding in a pediatric population with type 1 diabetes mellitus.
Gaete X, Iñiguez G, Linares J, Avila A, Mericq V
Pediatr Diabetes 2013 Sep;14(6):429-34. Epub 2013 Mar 12 doi: 10.1111/pedi.12021. PMID: 23490274

Clinical prediction guides

Reversible primary adrenal insufficiency related to anti-programmed cell-death 1 protein active immunotherapy: Insight into an unforeseen outcome of a rare immune-related adverse event.
Deligiorgi MV, Trafalis DT
Int Immunopharmacol 2020 Dec;89(Pt B):107050. Epub 2020 Oct 15 doi: 10.1016/j.intimp.2020.107050. PMID: 33069924
A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.
Vakkilainen S, Mäkitie R, Klemetti P, Valta H, Taskinen M, Husebye ES, Mäkitie O
Front Immunol 2018;9:2468. Epub 2018 Oct 25 doi: 10.3389/fimmu.2018.02468. PMID: 30410491Free PMC Article
Latent Adrenal Insufficiency: Concept, Clues to Detection, and Diagnosis.
Yamamoto T
Endocr Pract 2018 Aug;24(8):746-755. Epub 2018 Aug 7 doi: 10.4158/EP-2018-0114. PMID: 30084678
Addison disease presenting with acute neurologic deterioration: a rare presentation yields new lessons from old observations in primary adrenal failure.
Myers KA, Kline GA
Endocr Pract 2010 May-Jun;16(3):433-6. doi: 10.4158/EP09282.CR. PMID: 20061283
Growth hormone deficiency and antipituitary antibodies in a patient with common variable immunodeficiency.
Delvecchio M, De Bellis A, De Mattia D, Cavallo L, Martire B
J Endocrinol Invest 2009 Sep;32(8):637-40. Epub 2009 May 26 doi: 10.1007/BF03345733. PMID: 19509479

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