Cortisone Reductase Deficiency 2; Cortrd2

Description

Cortisone reductase deficiency (CRD) is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high NADPH/NADP+ ratio, generated in vivo through the activity of microsomal hexose-6-phosphate dehydrogenase (H6PD ), 11-beta-HSD switches to ketoreductase activity and generates active glucocorticoid. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting later with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lawson et al., 2011).For a discussion of genetic heterogeneity of cortisone reductase deficiency, see CORTRD1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Cortisone Reductase Deficiency 2; Cortrd2

  • Obesity
  • Infertility
  • Hirsutism
  • Epidermal acanthosis
  • Insulin resistance
  • Accelerated skeletal maturation
  • Acanthosis nigricans
  • Oligomenorrhea
  • Premature pubarche

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cortisone Reductase Deficiency 2; Cortrd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HSD11B1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

HSD11B1
Specificity
100 %
Genes
100 %
Single gene testing HSD11B1.

By CeGaT GmbH (Germany).

HSD11B1
Specificity
100 %
Genes
100 %
HSD11B1.

By Fulgent Genetics Fulgent Genetics (United States).

HSD11B1
Specificity
100 %
Genes
100 %
11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE 1.

By Laboratorio de Genetica Clinica SL (Spain).

H6PD, HSD11B1
Specificity
50 %
Genes
100 %

You can get up to -4 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM TREHALASE DEFICIENCY DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B BONE MARROW FAILURE SYNDROME 1; BMFS1 MOEBIUS SYNDROME ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B MECKEL SYNDROME, TYPE 10; MKS10