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Article

Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene.

The New England journal of medicine - 8 May 2003

Shozu Makio, Sebastian Siby, Takayama Kazuto, Hsu Wei-Tong, Schultz Roger A, Neely Kirk, Bryant Michael, Bulun Serdar E

Abstract excerpt

BACKGROUND: Gynecomastia of prepubertal onset may result from increased estrogen owing to excessive aromatase activity in extraglandular tissues. A gene in chromosome 15q21.2 encodes aromatase, the key enzyme for estrogen biosynthesis. Several physiologic tissue-specific promoters regulate the expression of aromatase, giving rise to messenger RNA (mRNA) species with an identical coding region but tissue-specific...

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PMID: 12736278
DOI: 10.1056/NEJMoa021559

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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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