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

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Abstract

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
Volume369
Issue number2
DOIs
StatePublished - Jan 1 2013

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Delayed Puberty
Estrogen Receptors
Estrogens
Mutation
Androgen Receptors
Knockout Mice
Androgens
Genes
Ovary
Breast
Chromosomes
Serum

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Quaynor, S. D., Stradtman, E. W., Kim, H. G., Shen, Y., Chorich, L. P., Schreihofer, D. A., & Layman, L. C. (2013). Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. New England Journal of Medicine, 369(2), 164-171. https://doi.org/10.1056/NEJMoa1303611

Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. / Quaynor, Samuel D.; Stradtman, Earl W.; Kim, Hyung Goo; Shen, Yiping; Chorich, Lynn P.; Schreihofer, Derek A.; Layman, Lawrence C.

In: New England Journal of Medicine, Vol. 369, No. 2, 01.01.2013, p. 164-171.

Research output: Contribution to journalArticle

Quaynor, SD, Stradtman, EW, Kim, HG, Shen, Y, Chorich, LP, Schreihofer, DA & Layman, LC 2013, 'Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant', New England Journal of Medicine, vol. 369, no. 2, pp. 164-171. https://doi.org/10.1056/NEJMoa1303611
Quaynor SD, Stradtman EW, Kim HG, Shen Y, Chorich LP, Schreihofer DA et al. Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. New England Journal of Medicine. 2013 Jan 1;369(2):164-171. https://doi.org/10.1056/NEJMoa1303611
Quaynor, Samuel D. ; Stradtman, Earl W. ; Kim, Hyung Goo ; Shen, Yiping ; Chorich, Lynn P. ; Schreihofer, Derek A. ; Layman, Lawrence C. / Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. In: New England Journal of Medicine. 2013 ; Vol. 369, No. 2. pp. 164-171.
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