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Cortisone reductase deficiency(CRD)

MedGen UID:
266223
Concept ID:
C1291245
Disease or Syndrome
Synonyms: CRD; Hyperandrogenism due to cortisone reductase deficiency
SNOMED CT: Deficiency of cortisone reductase (124138004); Deficiency of (R)-20-hydroxysteroid dehydrogenase (124138004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0000193
OMIM® Phenotypic series: PS604931
Orphanet: ORPHA168588

Definition

A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCortisone reductase deficiency

Professional guidelines

PubMed

Malikova J, Flück CE
Horm Res Paediatr 2014;82(3):145-57. Epub 2014 Aug 1 doi: 10.1159/000363107. PMID: 25096886
White PC
J Clin Endocrinol Metab 2005 Oct;90(10):5880-3. Epub 2005 Aug 9 doi: 10.1210/jc.2005-0942. PMID: 16091483

Recent clinical studies

Etiology

Bar-Lev A, Annes JP
Curr Opin Endocrinol Diabetes Obes 2012 Jun;19(3):159-67. doi: 10.1097/MED.0b013e328352f013. PMID: 22476103
Chua AK, Azziz R, Goodarzi MO
Mol Hum Reprod 2012 Jun;18(6):320-4. Epub 2012 Jan 10 doi: 10.1093/molehr/gas002. PMID: 22238371Free PMC Article
Shackleton CH
Lipids 2012 Jan;47(1):1-12. Epub 2011 Aug 27 doi: 10.1007/s11745-011-3605-6. PMID: 21874273Free PMC Article
Idkowiak J, Lavery GG, Dhir V, Barrett TG, Stewart PM, Krone N, Arlt W
Eur J Endocrinol 2011 Aug;165(2):189-207. Epub 2011 May 26 doi: 10.1530/EJE-11-0223. PMID: 21622478
Qin K, Rosenfield RL
Steroids 2011 Jan;76(1-2):135-9. Epub 2010 Nov 2 doi: 10.1016/j.steroids.2010.10.001. PMID: 21050867Free PMC Article

Diagnosis

Dhayat NA, Frey AC, Frey BM, d'Uscio CH, Vogt B, Rousson V, Dick B, Flück CE
J Steroid Biochem Mol Biol 2015 Nov;154:226-36. Epub 2015 Aug 19 doi: 10.1016/j.jsbmb.2015.07.024. PMID: 26297192
Idkowiak J, Lavery GG, Dhir V, Barrett TG, Stewart PM, Krone N, Arlt W
Eur J Endocrinol 2011 Aug;165(2):189-207. Epub 2011 May 26 doi: 10.1530/EJE-11-0223. PMID: 21622478
Krone N, Hughes BA, Lavery GG, Stewart PM, Arlt W, Shackleton CH
J Steroid Biochem Mol Biol 2010 Aug;121(3-5):496-504. Epub 2010 Apr 22 doi: 10.1016/j.jsbmb.2010.04.010. PMID: 20417277Free PMC Article
White PC, Rogoff D, McMillan DR
Curr Opin Pediatr 2008 Aug;20(4):453-7. doi: 10.1097/MOP.0b013e328305e439. PMID: 18622204
Małunowicz EM, Romer TE, Urban M, Bossowski A
Horm Res 2003;59(4):205-10. doi: 10.1159/000069326. PMID: 12649576

Therapy

Zajkowska A, Rydzewska M, Wojtkielewicz K, Pomaski J, Romer T, Bossowski A
Pediatr Endocrinol Diabetes Metab 2017;23(1):42-48. doi: 10.18544/PEDM-23.01.0073. PMID: 29073307
Kuang ZM, Wang Y, Wang JJ, Liu JH, Zeng R, Zhou Q, Yu ZQ, Jiang L
J Am Soc Hypertens 2017 Mar;11(3):136-139. Epub 2017 Feb 3 doi: 10.1016/j.jash.2017.01.012. PMID: 28236585
Małunowicz EM, Romer TE, Urban M, Bossowski A
Horm Res 2003;59(4):205-10. doi: 10.1159/000069326. PMID: 12649576
Jamieson A, Wallace AM, Andrew R, Nunez BS, Walker BR, Fraser R, White PC, Connell JM
J Clin Endocrinol Metab 1999 Oct;84(10):3570-4. doi: 10.1210/jcem.84.10.6031. PMID: 10522997

Prognosis

Zajkowska A, Rydzewska M, Wojtkielewicz K, Pomaski J, Romer T, Bossowski A
Pediatr Endocrinol Diabetes Metab 2017;23(1):42-48. doi: 10.18544/PEDM-23.01.0073. PMID: 29073307
Gambineri A, Vicennati V, Genghini S, Tomassoni F, Pagotto U, Pasquali R, Walker BR
J Clin Endocrinol Metab 2006 Jun;91(6):2295-302. Epub 2006 Mar 21 doi: 10.1210/jc.2005-2222. PMID: 16551740

Clinical prediction guides

Qin K, Rosenfield RL
Steroids 2011 Jan;76(1-2):135-9. Epub 2010 Nov 2 doi: 10.1016/j.steroids.2010.10.001. PMID: 21050867Free PMC Article
Smit P, Dekker MJ, de Jong FJ, van den Beld AW, Koper JW, Pols HA, Brinkmann AO, de Jong FH, Breteler MM, Lamberts SW
J Clin Endocrinol Metab 2007 Jan;92(1):359-62. Epub 2006 Oct 24 doi: 10.1210/jc.2006-1349. PMID: 17062770
Gambineri A, Vicennati V, Genghini S, Tomassoni F, Pagotto U, Pasquali R, Walker BR
J Clin Endocrinol Metab 2006 Jun;91(6):2295-302. Epub 2006 Mar 21 doi: 10.1210/jc.2005-2222. PMID: 16551740
Draper N, Stewart PM
J Endocrinol 2005 Aug;186(2):251-71. doi: 10.1677/joe.1.06019. PMID: 16079253
Tomlinson JW, Stewart PM
Horm Metab Res 2002 Nov-Dec;34(11-12):746-51. doi: 10.1055/s-2002-38242. PMID: 12660893

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