Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study

Purpose: We sought to determine the usefulness of fragile X Mental retardation I (FMRI) carrier testing among young infertile women with or without signs cif ovarian insufficiency as-compared With fertile; women. Methods: Three-Cohorts of women Were recruited determine the cytosine-guanine-guanine (CGG) repeats trinucleotide repeat length In the 5'-untranslated region of the FMR1 gene in lymphocyte DNA:; A total of 199 fertile women, who were reported to have Conceived within 3 months, were recruited together with 372 infertile women with ongoing;Menstrual cycles and 48 infertile women with pri; mary ovarian insufficiency. The various ranges-of FMR1 COG repeat lengths among infertile women were compared with those of fertile controls. hi infertile Women With ongoing menstrual cycle's, the serum concentrations of fcillide-stimulating hormone, anti-Muellerian-hOri inone, and irihibin B were measured during the early follicular Results: None. Of the three.categories. of FMR1 CGG repeat length expansions (premutation, intermediate range, and high normal 1 range) were more prevalent anibng infertile women than among fer- i tile WoMen. The CGG repeat length was not correlated with any Of 1 the-ovarian reserve parameters. _. Conclusion: In comparison with a generalized preconception screening strategy, infertility as a criterion, even together; with reduced ovarian reserve, is not suitable for identifying a higher pro; portiorr_Of Women with expanded PMR1 CGG repeat length:.