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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2008-10-9
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pubmed:abstractText |
Cortisone reductase deficiency (CRD) is characterized by a failure to regenerate cortisol from cortisone via 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1), resulting in increased cortisol clearance, activation of the hypothalamic-pituitary-axis (HPA) and ACTH-mediated adrenal androgen excess. 11beta-HSD1 oxoreductase activity requires the reduced nicotinamide adenine dinucleotide phosphate-generating enzyme hexose-6-phosphate dehydrogenase (H6PDH) within the endoplasmic reticulum. CRD manifests with hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males. Recent association studies have failed to corroborate findings that polymorphisms in the genes encoding H6PDH (R453Q) and 11beta-HSD1 (Intron 3 inserted adenine) interact to cause CRD.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-10385414,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-10522997,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-11150889,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-12649576,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-12858176,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-12960099,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-15047607,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-15090536,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-15280030,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-15466942,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-15561799,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-15956339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-16091483,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-16356929,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-16772151,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-16817821,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-16929377,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-17062770,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-17240046,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-18222920,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-1986026,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-4591166,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-7651477,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-8370690,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-8481337,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-8923828,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18628520-9405715
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0021-972X
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pubmed:author |
pubmed-author:ArltWiebkeW,
pubmed-author:Biason-LauberAnnaA,
pubmed-author:ConnellJohn M CJM,
pubmed-author:LaveryGareth GGG,
pubmed-author:MalunowiczEwa MEM,
pubmed-author:RayDavid WDW,
pubmed-author:RideJon PJP,
pubmed-author:ShackletonCedric H LCH,
pubmed-author:StewartPaul MPM,
pubmed-author:TiganescuAnaA,
pubmed-author:TomlinsonJeremy WJW,
pubmed-author:WalkerElizabeth AEA
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pubmed:issnType |
Print
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3827-32
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pubmed:dateRevised |
2010-9-21
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pubmed:meshHeading |
pubmed-meshheading:18628520-Adult,
pubmed-meshheading:18628520-Alopecia,
pubmed-meshheading:18628520-Biological Markers,
pubmed-meshheading:18628520-Carbohydrate Dehydrogenases,
pubmed-meshheading:18628520-Child,
pubmed-meshheading:18628520-Cortisone Reductase,
pubmed-meshheading:18628520-DNA Mutational Analysis,
pubmed-meshheading:18628520-Female,
pubmed-meshheading:18628520-Hirsutism,
pubmed-meshheading:18628520-Humans,
pubmed-meshheading:18628520-Male,
pubmed-meshheading:18628520-Metabolic Diseases,
pubmed-meshheading:18628520-Middle Aged,
pubmed-meshheading:18628520-Models, Biological,
pubmed-meshheading:18628520-Mutation,
pubmed-meshheading:18628520-Pedigree,
pubmed-meshheading:18628520-Puberty, Precocious,
pubmed-meshheading:18628520-Steroids
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pubmed:year |
2008
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pubmed:articleTitle |
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
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pubmed:affiliation |
Division of Medical Sciences, University of Birmingham, Birmingham B15 2TT, United Kingdom.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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