Cortisone Reductase Deficiency 1; Cortrd1

Description

Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1 ). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD ) 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 Lavery et al., 2008). Genetic Heterogeneity of Cortisone Reductase DeficiencyCORTRD2 (OMIM ) is caused by mutation in the HSD11B1 gene (OMIM ) on chromosome 1q32.

Clinical Features

Phenotypes and symptoms related to Cortisone Reductase Deficiency 1; Cortrd1

  • Hypertension
  • Obesity
  • Alopecia
  • Infertility
  • Hirsutism
  • Acne
  • Overweight
  • Oligomenorrhea
  • Adrenal hyperplasia

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.


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Cortisone Reductase Deficiency 1; Cortrd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)

View the complete list with 476 more genes
Specificity
1 %
Genes
100 %
H6PD.

By Fulgent Genetics Fulgent Genetics (United States).

H6PD
Specificity
100 %
Genes
100 %
11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE 1.

By Laboratorio de Genetica Clinica SL (Spain).

H6PD, HSD11B1
Specificity
50 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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