Premature ovarian failure and fragile X premutation: a study on 45 women.
OBJECTIVE
The aim of this study was to test for the presence of the fragile X (FRAXA) premutation a group of women with early menopause.


METHODS
45 women with idiopathic premature ovarian failure (POF), five with a familial and 40 with a sporadic form, were screened for the presence of FRAXA premutation. A control group of 28 women >45 years, with one or more children and no signs of POF, was also studied.


RESULTS
We found three cases of fragile X premutations in women all belonging to the group with sporadic POF.


CONCLUSIONS
Our results seems to confirm previous observations on the non random association between POF and FRAXA premutation.
Bussani
Cecilia
C
Department of Gynecology, Perinatology and Human Reproduction, University of Florence, Florence, Italy.
Papi
Laura
L
Sestini
Roberta
R
Baldinotti
Fulvia
F
Bucciantini
Sandra
S
Bruni
Vincenzina
V
Scarselli
Gianfranco
G
D000328:Adult; D017677:Age Distribution; D015139:Blotting, Southern; D016022:Case-Control Studies; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007558:Italy / Q000453:epidemiology; D008594:Menopause, Premature / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012016:Reference Values; D018570:Risk Assessment; D012680:Sensitivity and Specificity