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Increased circulating corticosterone level

MedGen UID:
1694925
Concept ID:
C5139295
Finding
HPO: HP:0032362

Definition

An abnormally elevated concentration of corticosterone in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased circulating corticosterone level

Conditions with this feature

Corticosterone methyloxidase type 2 deficiency
MedGen UID:
483046
Concept ID:
C3463917
Disease or Syndrome
CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (204300), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998).

Recent clinical studies

Diagnosis

Guzzoni V, Sanches A, Costa R, de Souza LB, Firoozmand LT, de Abreu ICME, da Costa Guerra JF, Pedrosa ML, Casarini DE, Marcondes FK, Cunha TS
Life Sci 2022 Sep 15;305:120758. Epub 2022 Jul 5 doi: 10.1016/j.lfs.2022.120758. PMID: 35798071
van der Geest R, van der Sluis RJ, Groen AK, Van Eck M, Hoekstra M
J Endocrinol 2019 Aug;242(2):1-12. doi: 10.1530/JOE-19-0079. PMID: 31035252
Ferrari P
Biochim Biophys Acta 2010 Dec;1802(12):1178-87. Epub 2009 Nov 10 doi: 10.1016/j.bbadis.2009.10.017. PMID: 19909806
Goeders NE
J Pharmacol Exp Ther 2002 Jun;301(3):785-9. doi: 10.1124/jpet.301.3.785. PMID: 12023504
Goeders NE
Psychoneuroendocrinology 2002 Jan-Feb;27(1-2):13-33. doi: 10.1016/s0306-4530(01)00034-8. PMID: 11750768

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