Variable phenotypes associated with aromatase (CYP19) insufficiency in humans

Tarih
2007
Yazar
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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Özet
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.
Bağlantı
http://hdl.handle.net/20.500.12627/149286
https://doi.org/10.1210/jc.2006-1181
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