Variable phenotypes associated with aromatase (CYP19) insufficiency in humans

Date
2007
Author
Auchus, Richard J.
Creighton, Sarah M.
Dattani, Mehul T.
Ercan, Oya
Achermann, John C.
Lin, Lin
Raza, Jamal
Burren, Christine P.
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Abstract
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.
URI
http://hdl.handle.net/20.500.12627/149286
https://doi.org/10.1210/jc.2006-1181
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