Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant
- PMID: 23841731
- PMCID: PMC3823379
- DOI: 10.1056/NEJMoa1303611
Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant
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-of-function 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. (Funded by the National Institutes of Health.).
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Comment in
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Reproductive endocrinology: ESR1 mutation causes estrogen resistance and puberty delay in women.Nat Rev Endocrinol. 2013 Oct;9(10):565. doi: 10.1038/nrendo.2013.151. Epub 2013 Jul 30. Nat Rev Endocrinol. 2013. PMID: 23897169 No abstract available.
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Effects of an estrogen receptor α variant.N Engl J Med. 2013 Oct 24;369(17):1664. doi: 10.1056/NEJMc1310364. N Engl J Med. 2013. PMID: 24152273 No abstract available.
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Effects of an estrogen receptor α variant.N Engl J Med. 2013 Oct 24;369(17):1663-4. doi: 10.1056/NEJMc1310364. N Engl J Med. 2013. PMID: 24152274 Free PMC article. No abstract available.
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