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).


METHODS
Case report.


METHODS
National Institutes of Health Clinical Center.


METHODS
A 35-year-old woman with confirmed spontaneous premature ovarian failure.


METHODS
FMR1 genetic testing.


METHODS
Number of CGG trinucleotide repeats in the 5' untranslated region of FMR1.


RESULTS
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).


CONCLUSIONS
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.
Corrigan
Emily C
EC
Section on Women's Health Research, Developmental Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892-1103, USA.
Raygada
Margarita J
MJ
Vanderhoof
Vien H
VH
Nelson
Lawrence M
LM
D000328:Adult; D002648:Child; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000235:genetics*