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cortisone reductase deficiency
Pathology:
1) activation of cortisone to cortisol does not occur
2) adrenocorticotropin-mediated androgen excess
Genetics:
- caused by defects in the HSD11B1 & G1DH/6PGL genes
Clinical manifestations:
- phenotype resembles polycystic ovary syndrome
General
enzyme deficiency
Database Correlations
OMIM 604931
References
OMIM :accession 604931