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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 |
2005-10-6
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pubmed:abstractText |
Apparent cortisone reductase deficiency (ACRD) is a rarely ascertained condition characterized by signs of androgen excess in women or children and decreased urinary excretion of cortisol metabolites compared with cortisone metabolites. These findings suggest a deficiency of 11beta-hydroxysteroid dehydrogenase type 1 (11-HSD1; encoded by the HSD11B1 gene), which normally converts cortisone to cortisol. Common polymorphisms in both HSD11B1 and the hexose-6-phosphate dehydrogenase (H6PD) gene encoding hexose-6-phosphate dehydrogenase have been found together in ACRD patients, who carry three of a possible four minor alleles at the two loci.
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pubmed:grant |
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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 |
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pubmed:issnType |
Print
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pubmed:volume |
90
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
5880-3
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16091483-11-beta-Hydroxysteroid Dehydrogenases,
pubmed-meshheading:16091483-Adolescent,
pubmed-meshheading:16091483-Adult,
pubmed-meshheading:16091483-Aged,
pubmed-meshheading:16091483-Alleles,
pubmed-meshheading:16091483-Carbohydrate Dehydrogenases,
pubmed-meshheading:16091483-Cortisone Reductase,
pubmed-meshheading:16091483-Female,
pubmed-meshheading:16091483-Gene Frequency,
pubmed-meshheading:16091483-Genetic Testing,
pubmed-meshheading:16091483-Genotype,
pubmed-meshheading:16091483-Humans,
pubmed-meshheading:16091483-Male,
pubmed-meshheading:16091483-Middle Aged,
pubmed-meshheading:16091483-Polycystic Ovary Syndrome,
pubmed-meshheading:16091483-Population,
pubmed-meshheading:16091483-Risk Factors,
pubmed-meshheading:16091483-Steroids,
pubmed-meshheading:16091483-Texas
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pubmed:year |
2005
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pubmed:articleTitle |
Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.
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pubmed:affiliation |
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390-9063, USA. perrin.white@utsouthwestern.edu
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, N.I.H., Extramural
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