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placental aromatase deficiency

Wednesday 19 May 2010

Placental aromatase defi ciency is a rare cause of maternal virilization
during pregnancy and pseudohermaphroditism of the female fetus.

Mutations in the aromatase gene, CYP19, which causes abnormally low conversion of androstenedione to 17β-estradiol and estrone, result in virilization of the mother
and her female fetus because of the accumulation of potent androgens that are not converted to estrogens.

The mothers usually show the onset of progressive virilization during the third trimester. The male fetus has normal genitalia.

See also

- disorders of sexual development