Dataset Information

Delayed puberty and estrogen resistance in a woman with estrogen receptor ? 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 ? (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.).

SUBMITTER: Quaynor SD

PROVIDER: S-EPMC3823379 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

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

Quaynor Samuel D SD Stradtman Earl W EW Kim Hyung-Goo HG Shen Yiping Y Chorich Lynn P LP Schreihofer Derek A DA Layman Lawrence C LC

The New England journal of medicine 20130701 2

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 ...[more]

PMID: 23841731

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Dataset Information

Delayed puberty and estrogen resistance in a woman with estrogen receptor ? variant.

Publications

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

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