Article
Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000
Ludwig M, Beck A, Wickert L, Bolkenius U, Tittel B, Hinkel K, Bidlingmaier F
Abstract excerpt
The conversion of C19 androgens to their corresponding C18 estrogens is catalyzed by an enzyme complex known as aromatase. P-450 aromatase is expressed in a tissue-specific manner and placental deficiency abolishes its function in protecting the female fetus from masculinization and the mother from prepartum virilization due to an excess of androgens. Here we report a novel homozygous aromatase mutation...
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