Steroid 21-hydroxylase

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

21-hydroxylase, CAS number: 9029-68-9

Definition
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Oxidoreductase localized in the cells of the adrenal cortex, which is essential for the biosynthesis of the steroid hormones aldosterone and cortisol. The key enzyme steroid-21-hydroxylase catalyzes the oxidation of the C21 carbon molecule in the steroid molecule (conversion of 17-OH-progesterone or progesterone to 11-deoxycortisol), a step that is essential for the structural design of the molecular structure of these steroid hormones.

General information
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The reason for the mutation of the gene lies in a recombination step with an inactive pseudogen located on the same chromosome section, which is necessary for the formation of these hormones.

Note(s)
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Autoantibodies against steroid 21-hydroxylase lead to autoimmune adrenalitis and destruction of the adrenal cortex. They are the cause of primary adrenal insufficiency(Addison's disease - E27.1-). Furthermore, autoantibodies against this oxyreductase are found in polyglandular autoimmune syndromes (E31.0).

Literature
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  1. Bansal S et al (2015) Presence of 21-hydroxylase Antibodies in a Boy with X-Linked Adrenal HypoplasiaCongenita
    . Horm Res Paediatr 84:408-413.
  2. Dörr HG et al. (2018) Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany. BMC Endocr Disord 18:37.

Outgoing links (1)

Addison's disease;

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Last updated on: 29.10.2020