Journal article

Recognizing rare disorders: aromatase deficiency

Margaret EE Jones, Wah Chin Boon, Kerry McInnes, Laura Maffei, Cesare Carani, Evan R Simpson

NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM | NATURE PUBLISHING GROUP | Published : 2007

Abstract

Aromatase deficiency is rare in humans. Affected individuals cannot synthesize endogenous estrogens. Aromatase is the enzyme that catalyzes conversion of androgens into estrogens, and if aromatase is nonfunctional because of an inactivating mutation, estrogen synthesis cannot occur. If the fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, so is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. To ..

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University of Melbourne Researchers