21-Hydroxylase Antibodies 

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21-Hydroxylase antibodies are markers of autoimmune Addison disease, which may manifest alone or as part of type I or type II polyglandular autoimmune syndrome.

The reference range of 21-hydroxylase antibodies for all ages and both sexes is less than 1 U/mL. 

A test result of 21-hydroxylase antibodies at 1 U/mL or higher indicates the presence of adrenal autoantibodies, which is consistent with Addison disease. ^[1]

Collection details are as follows:

Collection container/tube – Red top preferred, serum gel acceptable

Submission container/tube – Plastic vial

Specimen volume – 1 mL

Specimen minimum volume – 0.19 mL

Reject due to gross hemolysis or gross lipemia

Serum specimen stability – Frozen (preferred), 14 days; refrigerated, 7 days

In the United States, autoimmune destruction of the adrenal cortex most commonly causes chronic primary adrenal insufficiency (Addison disease). The presence of adrenal cortex autoantibodies in the serum is associated with Addison disease. ^{[2, 3]} It can occur sporadically or in combination with other autoimmune endocrine diseases; these together comprise type I or type II polyglandular autoimmune syndrome. ^[4]

The 3 major components of type I polyglandular autoimmune syndrome are as follows: ^[5]

Chronic mucocutaneous candidiasis

Hypoparathyroidism

Autoimmune adrenal insufficiency

Less common manifestations include the following:

Hypergonadotropic hypogonadism

Type 1 diabetes mellitus

Asplenia

Keratoconjunctivitis

Cholelithiasis

Malabsorption

Alopecia

Vitiligo

Interstitial nephritis

Autoimmune thyroid disease (not including Graves disease)

Pernicious anemia

Chronic atrophic gastritis

Chronic active hepatitis

Enamel hypoplasia, which occasionally precedes the onset of hypoparathyroidism

Polyglandular autoimmune syndrome type II consists of the following:

Pernicious anemia

Celiac disease

Primary biliary cirrhosis

Hypogonadism (usually autoimmune oophoritis)

Hypopituitarism

Addison disease

Autoimmune thyroid disease

Type 1 diabetes mellitus

Idiopathic thrombocytopenic purpura

Vitiligo

Alopecia

Seronegative arthritis

Myasthenia gravis

Parkinson disease

The primary autoantigen associated with autoimmune Addison disease has been shown to be the microsomal autoantigen 21-hydroxylase (55 kilodalton).

The incidence of antiadrenal and other autoantibodies by tissue type in patients with autoimmune adrenal insufficiency is as follows:

Adrenal: 60%-70%

Thyroid peroxidase: 50%

Parathyroid: 26%

Islet cell: 8%

Ovary: 22%

Testes: 5%

Parietal cell: 30%

Intrinsic factor: 9%

21-Hydroxylase antibodies are markers of autoimmune Addison disease, which may manifest alone or as part of type I or type II polyglandular autoimmune syndrome. These antibodies may be present even before the endocrine function is reduced.

Autoimmune adrenal disease is divided into stages. Initially, the adrenal glands may be enlarged and have extensive lymphocytic infiltration. With chronic disease, the glands can be small and sometimes difficult to locate. A thickened and fibrotic capsule is seen, and the cortex is completely destroyed, although some small clusters of adrenocortical cells surrounded by lymphocytes may exist, and the medulla is relatively spared. Adrenal insufficiency is clinically apparent only after 90% or more of the cortex has been destroyed.

Healthy subjects rarely have antibodies against other endocrine glands, but this is common in patients with autoimmune adrenal insufficiency. Over half of patients with autoimmune adrenal insufficiency have high serum antithyroid peroxidase antibody concentrations; nearly half of these patients have overt hypothyroidism. Many others have subclinical hypothyroidism (increased thyroid-stimulating hormone with normal serum thyroxine concentrations); these patients are at risk for developing overt hypothyroidism (Schmidt syndrome). ^[6]

The incidence of serum antiadrenal antibodies in patients with normal adrenal function but other autoimmune endocrine diseases is low (2%); the exception is those patients with hypoparathyroidism (16%).

The incidence of antiadrenal antibodies in patients with autoimmune disease of other endocrine glands is as follows:

Hypoparathyroidism: 16%

Goitrous autoimmune thyroiditis: 1.9%

Atrophic autoimmune thyroiditis: 1.7%

Hyperthyroidism: 1.9%

Diabetes mellitus: 1.2% ^{[7, 8]}

Pernicious anemia: <1%

Autoimmune adrenal insufficiency can be classified as either familial or nonfamilial. When the condition occurs alone, it is somewhat less likely to be familial in origin. Approximately one-third of such patients have affected family members, versus about half of patients who have adrenal insufficiency as part of polyglandular autoimmune syndrome type I or II.

Blizzard RM, Chee D, Davis W. The incidence of adrenal and other antibodies in the sera of patients with idiopathic adrenal insufficiency (Addison’s disease). Clin Exp Immunol. 1967 Jan. 2(1):19-30. [Medline]. [Full Text].

Coco G, Dal Pra C, Presotto F. Estimated risk for developing autoimmune Addison’s disease in patients with adrenal cortex autoantibodies. J Clin Endocrinol Metab. 2006. 91:1637.

Husebye ES, Allolio B, Arlt W, Badenhoop K, Bensing S, Betterle C, et al. Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency. J Intern Med. 2014 Feb. 275(2):104-15. [Medline].

Leshin M. Polyglandular autoimmune syndromes. Am J Med Sci. 1985 Aug. 290(2):77-88. [Medline].

Soderbergh A, Myhre AG, Ekwall O, Gebre-Medhin G, Hedstrand H, Landgren E, et al. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 2004 Feb. 89(2):557-62. [Medline].

McHardy-Young S, Lessof MH, Maisey MN. Serum TSH and thyroid antibody studies in Addison’s disease. Clin Endocrinol (Oxf). 1972. 1:45.

Gaete X, Iniguez G, Linares J, Avila A, Mericq V. Cortisol hyporesponsiveness to the low dose ACTH test is a frequent finding in a pediatric population with type 1 diabetes mellitus. Pediatr Diabetes. 2013 Sep. 14(6):429-34. [Medline].

Lupi I, Raffaelli V, Di Cianni G, Caturegli P, Manetti L, Ciccarone AM, et al. Pituitary autoimmunity in patients with diabetes mellitus and other endocrine disorders. J Endocrinol Invest. 2013 Feb. 36(2):127-31. [Medline].

Betterle C, Scalici C, Presotto F, Pedini B, Moro L, Rigon F. The natural history of adrenal function in autoimmune patients with adrenal autoantibodies. J Endocrinol. 1988 Jun. 117(3):467-75. [Medline].

Blizzard RM, Chee D, Davis W. The incidence of parathyroid and other antibodies in the sera of patients with idiopathic hypoparathyroidism. Clin Exp Immunol. 1966 Apr. 1(2):119-28. [Medline]. [Full Text].

Boscaro M, Betterle C, Sonino N, Volpato M, Paoletta A, Fallo F. Early adrenal hypofunction in patients with organ-specific autoantibodies and no clinical adrenal insufficiency. J Clin Endocrinol Metab. 1994 Aug. 79(2):452-5. [Medline].

Colls J, Betterle C, Volpato M, Prentice L, Smith BR, Furmaniak J. Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases. Clin Chem. 1995 Mar. 41(3):375-80. [Medline].

Falorni A, Nikoshkov A, Laureti S, Grenback E, Hulting AL, Casucci G, et al. High diagnostic accuracy for idiopathic Addison’s disease with a sensitive radiobinding assay for autoantibodies against recombinant human 21-hydroxylase. J Clin Endocrinol Metab. 1995 Sep. 80(9):2752-5. [Medline].

Irvine WJ, Stewart AG, Scarth L. A clinical and immunological study of adrenocortical insufficiency (Addison’s disease). Clin Exp Immunol. 1967 Jan. 2(1):31-70. [Medline].

Irvine, WJ, Barnes, EW. Addison’s disease, ovarian failure and hypoparathyroidism. Clin Endocrinol Metab. 1975. 4:379.

Irvine, WJ, Barnes, EW. Adrenocortical insufficiency. Clin Endocrinol Metab. 1972; 1:549:

Laureti S, De Bellis A, Muccitelli VI. Levels of adrenocortical autoantibodies correlate with the degree of adrenal dysfunction in subjects with preclinical Addison’s disease. J Clin Endocrinol Metab. 1998. 83:3507.

Nerup J. Addison’s disease–serological studies. Acta Endocrinol (Copenh). 1974. 76:142.

Nerup J, Andersen V, Bendixen G. Anti-adrenal, cellular hypersensitivity in Addison’s disease. Clin Exp Immunol. 1969 Apr. 4(4):355-63. [Medline]. [Full Text].

Saenger P, Levine LS, Irvine WJ, Gottesdiener K, Rauh W, Sonino N. Progressive adrenal failure in polyglandular autoimmune disease. J Clin Endocrinol Metab. 1982 Apr. 54(4):863-7. [Medline].

Alina G Sofronescu, PhD, NRCC-CC, FACB Assistant Professor, Board Certified Clinical Chemist, Medical Director of Clinical Chemistry Laboratory, Department of Pathology and Microbiology, University of Nebraska Medical Center

Alina G Sofronescu, PhD, NRCC-CC, FACB is a member of the following medical societies: American Association for Clinical Chemistry, Canadian Society of Clinical Chemists

Disclosure: Nothing to disclose.

Eric B Staros, MD Associate Professor of Pathology, St Louis University School of Medicine; Director of Clinical Laboratories, Director of Cytopathology, Department of Pathology, St Louis University Hospital

Eric B Staros, MD is a member of the following medical societies: American Medical Association, American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology

Disclosure: Nothing to disclose.

21-Hydroxylase Antibodies 

Research & References of 21-Hydroxylase Antibodies |A&C Accounting And Tax Services
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