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Article

Aromatase deficiency and estrogen resistance: from molecular genetics to clinic.

Seminars in reproductive medicine - 1 Jan 2000

Bulun S E

Abstract excerpt

Our knowledge of the physiologic roles of estrogen in women and men has been advanced by recent descriptions of mutations disrupting estrogen biosynthesis and action. Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19 gene. It gives rise to ambiguous genitalia in 46,XX individuals. At puberty, affected girls have hypergonadotropic hypogonadism, fail to develop secondary...

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Identifiers

PMID: 11305285
DOI: 10.1055/s-2000-13481

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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