A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome.

OBJECTIVE: To inform clinicians about a reproductive risk associated with spontaneous premature ovarian failure and the fragile X mental retardation 1 gene (FMR1).

DESIGN: Case report.

SETTING: National Institutes of Health Clinical Center.

PATIENT(S): A 35-year-old woman with confirmed spontaneous premature ovarian failure.

INTERVENTION(S): FMR1 genetic testing.

MAIN OUTCOME MEASURE(S): Number of CGG trinucleotide repeats in the 5' untranslated region of FMR1.

RESULT(S): Despite having ovarian failure the woman subsequently conceived and delivered a son with fragile X syndrome (>200 CGG repeats). She was then found to carry an FMR1 premutation (85 CGG repeats).

CONCLUSION(S): This is a real-life manifestation of a theoretical risk; a woman conceived subsequent to the diagnosis of spontaneous premature ovarian failure and has a child who manifests mental retardation due to fragile X syndrome. Women with spontaneous premature ovarian failure are at increased risk of having an FMR1 premutation and should be informed of the availability of fragile X testing. Should an FMR1 premutation be uncovered, this will allow patients to make informed reproductive decisions and help clinicians to properly diagnose family members who may have menstrual irregularity, developmental delay, or neurologic symptoms.