Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency.

Objective To compare the prevalence of intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency (oPOI) and in controls. Design Observational study. Setting Division of Infertility and Service of Genetic Medicine, Geneva University Hospitals. Patient(s) The study group consisted of 27 infertile women with oPOI referred by infertility specialists for FMR1 testing in 2005–6 because of unexplained poor response to controlled ovarian hyperstimulation or altered hormonal profiles. The control group consisted of 32 women undergoing genetic testing for conditions unrelated to mental retardation or ovarian function. The DNA samples were anonymized. Intervention(s) In the study group, data were collected concerning reproductive/family history, hormonal markers, possible fertility treatment outcomes, and results of karyotype and FMR1 testing. In the control group, FMR1 gene testing was done. The only clinical data available in controls were sex and indication for genetic testing. Main Outcome Measure(s) Distribution of FMR1 alleles. Result(s) Six (22%) of 27 women with oPOI had FMR1 alleles of >40 repeats (intermediate to premutation range), compared with one (3%) of 32 controls. Conclusion(s) These results suggest that women with oPOI might be at risk of carrying alleles in the intermediate and premutation range.