Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant

Samuel D. Quaynor, Earl W. Stradtman, Hyung Goo Kim, Yiping Shen, Lynn P. Chorich, Derek A. Schreihofer, Lawrence C. Layman

Research output: Contribution to journalArticlepeer-review

110 Scopus citations


Although androgen resistance has been characterized in men with a normal chromosome complement and mutations in the androgen-receptor gene, a mutation in the gene encoding estrogen receptor α (ESR1) was previously described only in one man and not, to our knowledge, in a woman. We now describe an 18-year-old woman without breast development and with markedly elevated serum levels of estrogens and bilateral multicystic ovaries. She was found to have a homozygous loss-offunction ESR1 mutation in a completely conserved residue that interferes with estrogen signaling. Her clinical presentation was similar to that in the mouse orthologue knockout. This case shows that disruption of ESR1 causes profound estrogen resistance in women.

Original languageEnglish (US)
Pages (from-to)164-171
Number of pages8
JournalNew England Journal of Medicine
Issue number2
StatePublished - 2013

ASJC Scopus subject areas

  • Medicine(all)


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