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Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.

Abstract:

In cortisone reductase deficiency (CRD), activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS; refs. 1,2). This suggests a defect in the gene HSD11B1 encoding 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1), a primary regulator of tissue-specific glucocorticoid bioavailability. We identified intronic mutations in HSD11B1 that resulted in reduced gene transcription in th...

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Publication status:
Published

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Publisher copy:
10.1038/ng1214

Authors


Walker, EA More by this author
Bujalska, IJ More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM
Chalder, SM More by this author
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Journal:
Nature genetics
Volume:
34
Issue:
4
Pages:
434-439
Publication date:
2003-08-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:c470a7b2-876e-4057-a101-71370813ae2b
Source identifiers:
482107
Local pid:
pubs:482107

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