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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

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Role:
Author
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Journal:
Nature genetics
Volume:
34
Issue:
4
Pages:
434-439
Publication date:
2003-08-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Source identifiers:
482107

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