Deficiency of (R)-20-hydroxysteroid dehydrogenase

Common Name(s)

Deficiency of (R)-20-hydroxysteroid dehydrogenase

Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; {600713}). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; {138090}) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {5:Lavery et al., 2008}). Genetic Heterogeneity of Cortisone Reductase Deficiency CORTRD2 ({614662}) is caused by mutation in the HSD11B1 gene ({600713}) on chromosome 1q32.
 

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