Expression of oestrogen receptor-alpha splicing variants and oestrogen receptor-beta in endometrium of infertile patients

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Abstract

Endometrium is one of the main target tissues of oestrogens. Although homozygous inactivation of oestrogen receptor-alpha leads to infertility in transgenic mice, oestrogen receptor-alpha is detected in endometrium of patients with unexplained infertility. Oestrogen receptor-alpha splicing variants and oestrogen receptor-beta have been studied in oestrogen target tissues, but their expression in endometrium throughout the menstrual cycle and in unexplained infertility is unknown. Using reverse transcription-polymerase chain reaction (RT-PCR), we studied the expression of oestrogen receptor-alpha splicing variants and oestrogen receptor-beta in uterine biopsies from 12 patients with endometriosis and 15 patients with unexplained infertility. A control group included 19 women who had had a previous pregnancy. Our study gave evidence of exon 2, 3, 4 or 7 deleted oestrogen receptor-alpha variants co-existing with the wild-type receptor. We did not find any exon 5 or 6-deleted variants. Exon 4 or 7-deleted variants were detected in all samples. Exon 2 or 3-deleted variants were detected at a similar frequency in fertile women (58 and 68% respectively), endometriotic patients (67 and 83% respectively) and infertile patients (73 and 80% respectively). During the follicular phase, there was a non-significant trend towards a lower frequency of exon-2 deleted variants in the fertile group when compared with the hypofertile group. Oestrogen receptor-beta was detected in all samples. Our preliminary study showed that altered expression of oestrogen receptor-alpha variants and oestrogen receptor-beta may not explain the hypofertility state.

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Condition tags

endometriosisinfertility

MeSH descriptors

Alternative Splicing Endometrium Infertility, Female Receptors, Estrogen Animals Endometrium Estrogen Receptor alpha Estrogen Receptor beta Exons Female Humans Infertility, Female Mice Mice, Transgenic Polymerase Chain Reaction Pregnancy Receptors, Estrogen Receptors, Estrogen RNA, Messenger RNA, Messenger

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europepmc
last seen: 2026-06-19T06:14:56.452680+00:00
pubmed
last seen: 2026-05-13T22:10:35.327253+00:00
unpaywall
last seen: 2026-05-14T19:30:52.867331+00:00
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Courtesy of the U.S. National Library of Medicine