Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations
نویسندگان
چکیده
منابع مشابه
Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying...
متن کاملI-32: Management of Diminished Ovarian Reserve
The standard goal of all fertility treatments is the improvement of pregnancy rates in infertile patients. Within the last 20 years, ovulation induction has contributed to the success of assisted reproduction techniques e.g. in vitro fertilization (IVF) and embryo-transfer (ET). The efficacy of these techniques depends on a personalized protocol of controlled ovarian hyperstimulation (COH) and ...
متن کاملIncreased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function.
BACKGROUND The FMR1 premutation is associated with overt primary ovarian insufficiency (POI). However, its prevalence in women with occult POI (i.e. menstrual cycles, but impaired ovarian response) has not been examined. We hypothesized that both the FMR1 premutation and intermediate allele is more frequent in infertile women with occult POI than in controls, and that a repeat length cutoff mig...
متن کاملFragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.
Spontaneous 46,XX primary ovarian insufficiency (POI), also known as 'premature menopause' or 'premature ovarian failure', refers to ovarian dysfunction that results in a range of abnormalities, from infertility to early menopause as the end stage. The most common known genetic cause of POI is the expansion of a CGG repeat to 55-199 copies (premutation) in the 5' untranslated region in the X-li...
متن کاملReproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).
OBJECTIVE Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X-associated POI (FXPOI). METHODS Semistructured interviews with 79 women with FXPOI were con...
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ژورنال
عنوان ژورنال: Frontiers in Molecular Neuroscience
سال: 2017
ISSN: 1662-5099
DOI: 10.3389/fnmol.2017.00290