[Abnormal function of ovaries in women carriers of premutation in the FMR1 gene].
Premature ovarian failure, cessation of ovarian function at the age under 40 affects 1% of women in general population. This abnormality has been diagnosed in 16 to 21% of the carriers of premutation in the FMR1 gene. The consequences of premature ovarian failure include the loss of fertility and clinical manifestations of estrogen depletion. Low levels of estrogens in young person increase the risk of osteoporosis and cardiovascular disorders. Thus the carriers of premutation in the FMR1 gene should be offered genetic counseling. Genetic counseling is a procedure of informing the couple about the risks for their future offspring in order to enable them to make informed decisions that are in line with their personal opinions, ethical values, norms, and personality.
Lisik
Małgorzata Z
MZ
Katedry i Zakładu Biologii Ogólnej, Molekularnej i Genetyki Slaskiej Akademii Medycznej w Katowicach. mlisik@slam.katowice.pl
D000328:Adult; D002353:Carrier State / Q000175:diagnosis*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D005817:Genetic Counseling / Q000941:ethics / Q000331:legislation & jurisprudence; D005820:Genetic Testing / Q000941:ethics / Q000331:legislation & jurisprudence; D006579:Heterozygote; D006801:Humans; D008594:Menopause, Premature / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1