Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cortisol 11-beta-ketoreductase

The enzyme encoded by this gene metabolises cortisol to cortisone in the kidney and thereby prevents excessive mineralocorticoid receptor stimulation by cortisol. Deficiency results in clinical symptoms similar to hyperaldosteronism, which is remediable by dexamethasone suppressing cortisol secretion.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Methylation test
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Apparent mineralocorticoid excess
HSD11B2

References:

1.

Palermo M et al. (2004) Apparent mineralocorticoid excess syndrome: an overview.

[^]
2.

Kamide K et al. (2006) Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.

[^]
3.

Iwai N et al. (2004) Genetic analysis of 22 candidate genes for hypertension in the Japanese population.

[^]
4.

Alikhani-Koopaei R et al. (2004) Epigenetic regulation of 11 beta-hydroxysteroid dehydrogenase type 2 expression.

[^]
5.

Carvajal CA et al. (2005) Biochemical and genetic characterization of 11 beta-hydroxysteroid dehydrogenase type 2 in low-renin essential hypertensives.

[^]
6.

Williams TA et al. (2005) Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides.

[^]
7.

Ge RS et al. (2005) Gene expression in rat leydig cells during development from the progenitor to adult stage: a cluster analysis.

[^]
8.

Bassett MH et al. (2005) Expression profiles for steroidogenic enzymes in adrenocortical disease.

[^]
9.

NCBI article

NCBI 3291 [^]
10.

OMIM.ORG article

Omim 614232 [^]
11.

Orphanet article

Orphanet ID 122502 [^]
12.

Wikipedia article

Wikipedia EN (Corticosteroid_11-beta-dehydrogenase_isozyme_2) [^]
Update: April 29, 2019