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Article

Aromatase and estrogen receptor α deficiency.

Fertility and sterility - 1 Feb 2014

Bulun Serdar E

Abstract excerpt

Studies on the phenotypes of women and men with mutations disrupting estrogen biosynthesis and action have significantly advanced our knowledge of the physiologic roles of estrogen in humans. Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19A1 gene. It gives rise to ambiguous genitalia in 46,XX fetuses. At puberty, affected girls have hypergonadotropic hypogonadism, do...

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Identifiers

PMID: 24485503
DOI: 10.1016/j.fertnstert.2013.12.022
PMCID: PMC3939057

Genes

ESR1

Provenance

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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