Variable phenotypes associated with aromatase (CYP19) insufficiency in humans
- Auchus, Richard J.
- Creighton, Sarah M.
- Dattani, Mehul T.
- Ercan, Oya
- Achermann, John C.
- Lin, Lin
- Raza, Jamal
- Burren, Christine P.
Publication date
January 2007
DOI Publisher
The Endocrine Society Journal
The Journal of Clinical Endocrinology & MetabolismAbstract
Context: The P450 enzyme aromatase ( CYP19) plays a crucial role in the endocrine and paracrine biosynthesis of estrogens from androgens in many diverse estrogen-responsive tissues. Complete aromatase deficiency has been reported in a small number of 46, XX girls with genital ambiguity and absent pubertal development, but it is unknown whether nonclassic phenotypes exist
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