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Article

Recognizing rare disorders: aromatase deficiency.

Nature clinical practice. Endocrinology & metabolism - 1 May 2007

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

Abstract excerpt

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...

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Identifiers

PMID: 17452968
DOI: 10.1038/ncpendmet0477

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.Semantic proximity Read ↗

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